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The following Conditions are related to

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  • Acanthocytosis-neurologic disorder

    Neuroacanthocytosis is a general term for a group of rare progressive disorders characterized by the association of misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. Chorea, which is characterized by rapid, involuntary, purposeless movements, especially of the face, feet and hands, is the most common movement disorder associated with neuroacanthocytosis. Additional symptoms often d  Read More

  • Agenesis of commissura magna cerebri

    Agenesis of corpus callosum (ACC) is a rare disorder that is present at birth (congenital). It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. This part of the brain is normally composed of transverse fibers. The cause of agenesis of corpus callosum is usually not known, but it can be inherited as either an autosomal recessive trait or an X-linked dominant trait.  Read More

  • Agenesis of corpus callosum

    Agenesis of corpus callosum (ACC) is a rare disorder that is present at birth (congenital). It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. This part of the brain is normally composed of transverse fibers. The cause of agenesis of corpus callosum is usually not known, but it can be inherited as either an autosomal recessive trait or an X-linked dominant trait.  Read More

  • Alexander disease

    Alexander disease is named after the physician who first described the condition in 1949 (WS Alexander). It is an extremely rare, usually progressive and fatal, neurological disorder. Initially it was detected most often during infancy or early childhood, but as better diagnostic tools have become available has been found to occur with similar frequency at all stages of life. Alexander disease has historically been included among the leukodyst  Read More

  • Alzheimer's disease

    Alzheimer's disease is a progressive neurologic disorder that causes the brain to shrink (atrophy) and brain cells to die. Alzheimer's disease is the most common cause of dementia — a continuous decline in thinking, behavioral and social skills that affects a person's ability to function independently. Approximately 5.8 million people in the United States age 65 and older live with Alzhei  Read More

  • Aneurysm

    An aneurysm is an abnormal area of localized widening of a blood vessel. The aorta bulges at the site of an aneurysm like a weak spot on a worn tire. Aortic aneurysms are typically spindle-shaped and involve the aorta below the arteries to the kidneys. The most common cause of an aneurysm is arteriosclerosis. Smoking is a major risk factor. Abdominal aortic aneurysms often do not cause symptoms. If  Read More

  • Arachnoid cysts

    Arachnoid cysts are fluid-filled sacs that occur on the arachnoid membrane that covers the brain (intracranial) and the spinal cord (spinal). There are three membranes covering these parts of the central nervous system: the dura mater, arachnoid, and pia mater. Arachnoid cysts appear on the arachnoid membrane, and they may also expand into the space between the pia mater and arachnoid membranes (subarachnoid space). The most common locations f  Read More

  • Arachnoidal fibroblastoma

    Meningiomas are benign, slow-growing tumors, classified as brain tumors, but actually growing in the three protective membranes that surround the brain (meninges). Sometimes they cause thickening or thinning of adjoining skull bones. Meningiomas do not spread to other areas of the body.  Read More

  • Arhinencephaly

    Holoprosencephaly (HPE) is the failure of the prosencephalon, or forebrain, to develop normally. The forebrain is a region of the brain in the fetus that develops into parts of the adult brain, including the cerebral cortex. Instead of the normal complete separation of the left and right halves of the forebrain, there is an abnormal continuity between the two sides. There are several different types of holoprosencephaly. In the alobar fo  Read More

  • Arnold-chiari malformation

    Chiari malformations are a group of complex brain abnormalities that affect the area in lower back of the skull where the brain and spinal cord connect. Chiari malformations are thought to be present at birth (congenital), although in many cases they may not become apparent until adulthood. In extremely rare cases, a Chiari malformation may be acquired during life. The exact cause of Chiari malformations are not known, but often the ca  Read More

  • Arteriovenous malformations

    Arteriovenous malformations (AVMs) are defects of the circulatory system that are generally believed to arise during embryonic or fetal development or soon after birth. They are comprised of snarled tangles of arteries and veins. Arteries carry oxygen-rich blood away from the heart to the body's cells; veins return oxygen-depleted blood to the lungs and heart. The absence of capillaries -- small blood vessels that connect arteries to veins --  Read More

  • Asperger's syndrome (asperger syndrome, asperger disorder)

    Asperger’s syndrome, though no longer an official diagnosis, belongs to a group of neurodevelopment conditions known as autism spectrum disorder (ASD). Experts consider what was previously diagnosed as Asperger’s syndrome to fall on the mild end of the autism spectrum. Now you might also notice this called level 1 ASD. Main signs of Asperger’s include: having difficulty with social interacti  Read More

  • Attention deficit hyperactivity disorder

    Attention deficit hyperactivity disorder (ADHD) is a mental-health condition that has characteristics of difficulty concentrating, controlling impulses, and/or excessive activity. Though there is no particular cause of ADHD, there are many social, biological, environmental factors that may raise one's risk of developing or being diagnosed with the disorder. There are three kinds of ADHD: predominately inattentive, pred  Read More

  • Auto immune encephalitis

    Autoimmune encephalitis is a type of brain inflammation caused by the body's own immune system attacking healthy brain cells. It can cause a wide range of neurological symptoms, including confusion, memory loss, seizures, and difficulty speaking. Treatment typically involves a combination of medications, such as steroids and immunosuppressants, to reduce inflammation and suppress the immune system.  Read More

  • Axonal neuropathy, giant

    Giant axonal neuropathy is a rare neuropathy that severely affects the peripheral as well as the central nervous system. The first symptoms appear in early childhood. This disorder is characterized by abnormalities in the peripheral and central nervous systems including low muscle tone (hypotonia), muscle weakness, decreased reflexes, impaired muscle coordination (ataxia), seizures and intellectual disability. Pale, tightly curled hair is freq  Read More

  • Azorean neurologic disease

    Machado-Joseph Disease (MJD-III), also called spinocerebellar ataxia type III, is a rare, inherited, ataxia (lack of muscular control) affecting the central nervous system and characterized by the slow degeneration of particular areas of the brain called the hindbrain. Patients with MJD may eventually become crippled and/or paralyzed but their intellect remains intact. The onset of symptoms of MJD varies from early teens to late adulthood.  Read More

  • Baillarger's syndrome

    Frey syndrome is a rare disorder that most often occurs as a result of surgery in the area near the parotid glands. The parotid glands are the largest salivary glands in the body located just below the ears on either side of the face. The main symptoms of Frey syndrome are undesirable sweating and flushing occurring on the cheek, temple (temporal region), or behind the ears (retroauricular region) after eating certain foods, especially those t  Read More

  • Batten disease

    Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatt  Read More

  • Batten-mayou syndrome

    Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatt  Read More

  • Batten-vogt syndrome

    Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatt  Read More

  • Beckwith wiedemann syndrome

    Beckwith-Wiedemann syndrome (BWS) is a rare genetic overgrowth disorder. It is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from case to case. However, in many individuals, associated features include above-average birth and weight and increased growth after birth (postnatally), an usually large tongue (macroglossia), enlargement of certain internal organs (visceromegaly), and protrusion of  Read More

  • Bell's palsy

    Bell's palsy (Bell palsy) is paralysis of the facial nerve of unknown cause. The diagnosis is made when no other cause can be identified. Although Bell's palsy is thought to be caused by a viral infection of the facial nerve, this hasn't been proven. Other names for this condition are "idiopathic facial palsy" or Antoni's palsy. Bell's palsy is usually a self-limiting, non-life-threatening condition that resolves spontaneously, usually  Read More

  • Bifid cranium

    Encephaloceles are rare birth defects associated with skull defects characterized by partial lacking of bone fusion leaving a gap through which a portion of the brain sticks out (protrudes). In some cases, cerebrospinal fluid or the membranes that cover the brain (meninges) may also protrude through this gap. The portion of the brain that sticks outside the skull is usually covered by skin or a thin membrane so that the defect resembles a smal  Read More

  • Bilirubin encephalopathy

    Kernicterus is a rare neurological disorder characterized by excessive levels of bilirubin in the blood (hyperbilirubinemia) during infancy. Bilirubin is an orange-yellow bile pigment that is a byproduct of the natural breakdown of hemoglobin in red blood cells (hemolysis). Toxic levels of bilirubin may accumulate in the brain, potentially resulting in a variety of symptoms and physical findings. These symptoms may include lack of energy (leth  Read More

  • Bloch-sulzberger syndrome

    Incontinentia Pigmenti (IP) is a rare genetic dermatological disorder affecting the skin, hair, teeth, and central nervous system. Progressive skin changes occur in four stages, the first of which appear in early infancy or can be present at birth. IP is an X-linked dominant genetic disorder caused by mutations in the IKBKG gene.IP was named based on the appearance of the skin under the microscope.  Read More

  • Botulism

    The botulism neurotoxin is one of the most potent, lethal substances known. Botulism is a disease caused by this neurotoxin (specifically A, B, E, or F type neurotoxin). The neurotoxin is produced by bacteria called Clostridium botulinum. The neurotoxin paralyzes muscles and can be deadly. There are three major types of botulism that differ in how they are acquired: food-borne, wound, and infant bot  Read More

  • Brachial neuritis

    Parsonage-Turner syndrome is a relatively common condition characterized by inflammation of the network of nerves that control and supply (innervate) the muscles of the chest, shoulders, and arms (brachial plexus). Individuals with the condition first experience a sudden onset of severe pain across the shoulder and upper arm. The muscles of the affected shoulder show weakness, wasting (atrophy), and paralysis (atrophic paralysis) within a few  Read More

  • Brachial plexus neuritis

    Parsonage-Turner syndrome is a relatively common condition characterized by inflammation of the network of nerves that control and supply (innervate) the muscles of the chest, shoulders, and arms (brachial plexus). Individuals with the condition first experience a sudden onset of severe pain across the shoulder and upper arm. The muscles of the affected shoulder show weakness, wasting (atrophy), and paralysis (atrophic paralysis) within a few  Read More

  • Brachial plexus palsy

    Brachial plexus palsy, also known as Erb's palsy, is a paralysis or weakness of the arm caused by an injury to one or more nerves that control and supply the muscles of the shoulder and upper extremities (upper brachial plexus). It is more commonly seen in newborns (neonates) and is often the result of a difficult delivery. When it occurs in adults, the cause typically is an injury that has caused stretching, tearing or other trauma to the bra  Read More

  • Brain aneurysm(cerebral aneurysm)

    Brain aneurysm  An aneurysm is a ballooning at a weak spot in an artery wall. An aneurysm's walls can be thin enough to rupture. The illustration shows an individual with an unruptured aneurysm. The inset shows what happens when the aneurysm ruptures. The Dangers of Brain Aneurysm Aneurysms can lurk without symptoms, but screening can save lives. Click here for an infographic to learn more A brain a  Read More

  • Brain hemorrhage (brain bleeding)

    A brain hemorrhage is bleeding in or around the brain. Causes of brain hemorrhage include high blood pressure, abnormally weak blood vessels that leak, drug abuse, and trauma. Many people who experience a brain hemorrhage have symptoms as though they are having a stroke, and can develop weakness on one side of their body, difficulty speaking, or a sense of numbness. Difficulty performing usual activities, including problems with walking or eve  Read More

  • Brain tumor

    A brain tumor is a mass or growth of abnormal cells in your brain. Many different types of brain tumors exist. Some brain tumors are noncancerous (benign), and some brain tumors are cancerous (malignant). Brain tumors can begin in your brain (primary brain tumors), or cancer can begin in other parts of your body and spread to your brain (secondary, or metastatic, brain tumors). How quickly a brain tumor grows can vary greatly.  Read More

  • Brain tumor - polyposis syndrome

    Turcot syndrome is a rare inherited disorder characterized by the association of benign growths (adenomatous polyps) in the mucous lining of the gastrointestinal tract with tumors of the central nervous system. Symptoms associated with polyp formation may include diarrhea, bleeding from the end portion of the large intestine (rectum), fatigue, abdominal pain, and weight loss. Affected individuals may also experience neurological symptoms, depe  Read More

  • Brain tumors, general

    A brain tumor is a mass or growth of abnormal cells in your brain. Many different types of brain tumors exist. Some brain tumors are noncancerous (benign), and some brain tumors are cancerous (malignant). Brain tumors can begin in your brain (primary brain tumors), or cancer can begin in other parts of your body and spread to your brain (secondary, or metastatic, brain tumors). How quickly a brain tumor grows can vary greatly.  Read More

  • Brain, micropolygyria

    Fukuyama type congenital muscular dystrophy (FCMD) is one of several forms of a rare type of muscular dystrophy known as congenital muscular dystrophy. It is inherited as an autosomal recessive trait. Symptoms of this disorder are apparent at birth and progress slowly. In addition to general muscle weakness and deformities of the joints (contractures), FCMD is often accompanied by seizures, mental retardation and speech problems. This disorder  Read More

  • Branched chain ketonuria i

    Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to breakdown (metabolize) specific amino acids in the body. Because these amino acids are not metabolized, they, along with their various byproducts, abnormally accumulate in the cells and fluids of the body. Such accumulation can cause a variety of symptoms including letharg  Read More

  • Branchio-oto-renal dysplasia

    Branchio-oto-renal (BOR) syndrome is a rare disorder inherited as an autosomal dominant genetic trait. This disorder is characterized by pits or ear tags in front of the outer ear, abnormal passages from the throat to the outside surface of the neck (branchial fistulas), branchial cysts, hearing loss and/or kidney (renal) abnormalities.  Read More

  • Cacchi-ricci disease

    Medullary Sponge Kidney is a rare disorder characterized by the formation of cystic malformations in the collecting ducts and the tubular structures within the kidneys (tubules) that collect urine. One or both kidneys may be affected. The initial symptoms of this disorder may include blood in the urine (hematuria), calcium stone formation in the kidneys (nephrolithiasis) or infection. The exact cause of Medullary Sponge Kidney is not known.  Read More

  • Carotid artery disease

    The carotid arteries provide blood supply to the head. There are two common carotid arteries, located on each side of the neck, that divide into the internal and external carotid arteries. The external carotid artery provides blood supply to the scalp, face, and neck while the internal carotid artery supplies blood to the brain. Narrowing of the internal carotid artery may decrease blood supply to half of the brain that it supplies. Th  Read More

  • Cauda equina syndrome

    Cauda equina syndrome is an uncommon compression of the nerves at the end of the spinal cord within the spinal canal. Cauda equina syndrome can be caused by any condition that results in direct irritation or pinching of the nerves at the end of the spinal cord. Symptoms of cauda equina syndrome include low back pain, numbness and/or tingling in the buttocks and lower extremities (sciatica), weakness in the legs, and in  Read More

  • Cervicogenic headaches

    Cervicogenic headaches are headaches that originate from the neck. They are caused by dysfunction in the cervical spine, which can be due to injury, poor posture, or degenerative changes in the spine. Symptoms of cervicogenic headaches include pain in the neck, shoulder, and head, as well as dizziness, blurred vision, and nausea. Treatment typically involves physical therapy, medications, and lifestyle modifications.  Read More

  • Charcot-marie-tooth type 4e

    Congenital hypomyelination neuropathy (CHN) is a neurological disorder present at birth. Major symptoms may include respiratory difficulty, muscle weakness and incoordination, poor muscle tone (neonatal hypotonia), absence of reflexes (areflexia), difficulty in walking (ataxia), and/or impaired abilities to feel or move part of the body.  Read More

  • Charge syndrome

    CHARGE syndrome is a rare disorder that arises during early fetal development and affects multiple organ systems. The term CHARGE comes from the first letter of some of the more common features seen in these children: (C) = coloboma (usually retinochoroidal) and cranial nerve defects (80-90%)(H) = heart defects in 75-85%, especially tetralogy of Fallot(A) = atresia of the choanae (blocked nasal breathing passages) (50-6  Read More

  • Chiari i syndrome

    Chiari-Frommel Syndrome is a rare endocrine disorder that affects women who have recently given birth (postpartum) and is characterized by the over-production of breast milk (galactorrhea), lack of ovulation (anovulation), and the absence of regular menstrual periods (amenorrhea). In Chiari-Frommel Syndrome, these symptoms persist long (for more than six months) after childbirth. The absence of normal hormonal cycles may result in reduced size  Read More

  • Chiari's disease

    Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction (occlusion) of the veins of the liver (hepatic veins). Symptoms associated with Budd Chiari syndrome include pain in the upper right part of the abdomen, an abnormally large liver (hepatomegaly), and/or accumulation of fluid in the space (peritoneal cavity) between the two layers of the membrane that lines the stomach (ascites). Additional findings that may be a  Read More

  • Childhood giant axonal neuropathy

    Giant axonal neuropathy is a rare neuropathy that severely affects the peripheral as well as the central nervous system. The first symptoms appear in early childhood. This disorder is characterized by abnormalities in the peripheral and central nervous systems including low muscle tone (hypotonia), muscle weakness, decreased reflexes, impaired muscle coordination (ataxia), seizures and intellectual disability. Pale, tightly curled hair is freq  Read More

  • Chronic migraine

    Chronic migraine is a type of migraine headache that occurs on 15 or more days per month for at least three months. It is characterized by moderate to severe headaches that last for four hours or more and are often accompanied by nausea, vomiting, and sensitivity to light and sound. Chronic migraine can have a significant impact on a person's quality of life, as it can interfere with daily activities and cause difficulty in concentrating and s  Read More

  • Chronicautoimmune

    Chronic autoimmune diseases are conditions in which the body's immune system mistakenly attacks healthy tissue. Examples of chronic autoimmune diseases include rheumatoid arthritis, lupus, multiple sclerosis, type 1 diabetes, and inflammatory bowel disease.  Read More

  • Cleidocranial dysplasia

    Cleidocranial dysplasia is a rare skeletal dysplasia characterized by short stature, distinctive facial features and narrow, sloping shoulders caused by defective or absent collarbones (clavicles). Major symptoms may include premature closing of the soft spot on the head (coronal), delayed closure of the space between the bones of the skull (fontanels), narrow and abnormally shaped pelvic and pubic bones and deformations in the chest (thoracic  Read More

  • Cluster headaches

    Cluster headaches are a type of headache disorder characterized by recurrent, severe headaches on one side of the head. They are often accompanied by other symptoms such as a runny or stuffy nose, watery eyes, and facial flushing. Cluster headaches are typically more severe than other types of headaches and can last anywhere from 15 minutes to 3 hours. They are often referred to as "suicide headaches" due to the intense pain they cause.  Read More

  • Cmt4e

    Congenital hypomyelination neuropathy (CHN) is a neurological disorder present at birth. Major symptoms may include respiratory difficulty, muscle weakness and incoordination, poor muscle tone (neonatal hypotonia), absence of reflexes (areflexia), difficulty in walking (ataxia), and/or impaired abilities to feel or move part of the body.  Read More

  • Cochin jewish disorder

    Haim-Munk syndrome is a rare genetic disorder characterized by the development of red, scaly thickened patches of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis), frequent pus-producing (pyogenic) skin infections, overgrowth (hypertrophy) of the fingernails and toenails (onychogryposis), and degeneration of the structures that surround and support the teeth (periodontosis). Periodontosis usually results in th  Read More

  • Cockayne syndrome

    Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation, i.e. short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematurely aged appearance (progeria). In the classical form of Cockayne Syndrome (CS type I) the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenit  Read More

  • Cockayne syndrome type ii

    Cerebro-oculo-facio-skeletal (COFS) syndrome is a genetic degenerative disorder of the brain and spinal cord that begins before birth. The disorder is characterized by growth failure at birth and little or no neurological development, structural abnormalities of the eye and fixed bending of the spine and joints. Abnormalities of the skull, face, limbs and other parts of the body may also occur. COFS syndrome is inherited as an autosomal recess  Read More

  • Cod-md syndrome

    Walker-Warburg syndrome (WWS) is a rare multisystem disorder characterized by muscle, brain and eye abnormalities, often leading to death in the first weeks of life. However, the specific symptoms and severity of WWS can vary greatly from case to case. The most consistent features are (1) a smooth appearance of the surface of the brain due to lack of normal folding pattern (lissencephaly or agyria), often with malformations of other brain stru  Read More

  • Cold agglutinin disease

    Cold antibody hemolytic anemia (CAHA) is a rare autoimmune disorder characterized by the premature destruction of red blood cells (rbcs) by the body's natural defenses against invading organisms (antibodies). Normally, the red blood cells have a life span of approximately 120 days before they are destroyed by the spleen. In individuals with CAHA, the red blood cells are destroyed prematurely and the rate of production of new cells in the bone  Read More

  • Compartment syndrome

    Compartment syndrome describes increased pressure within a muscle compartment of the arm or leg. It is most often due to injury, such as fracture, that causes bleeding in a muscle, which then causes increased pressure in the muscle. This pressure increase causes nerve damage due to decreased blood supply. Symptoms include severe pain, numbness, and decreased range of motion. Surgery (fasciotomy) is the only treatment f  Read More

  • Cranial meningoencephalocele

    Encephaloceles are rare birth defects associated with skull defects characterized by partial lacking of bone fusion leaving a gap through which a portion of the brain sticks out (protrudes). In some cases, cerebrospinal fluid or the membranes that cover the brain (meninges) may also protrude through this gap. The portion of the brain that sticks outside the skull is usually covered by skin or a thin membrane so that the defect resembles a smal  Read More

  • Craniocele

    Encephaloceles are rare birth defects associated with skull defects characterized by partial lacking of bone fusion leaving a gap through which a portion of the brain sticks out (protrudes). In some cases, cerebrospinal fluid or the membranes that cover the brain (meninges) may also protrude through this gap. The portion of the brain that sticks outside the skull is usually covered by skin or a thin membrane so that the defect resembles a smal  Read More

  • Craniofrontonasal dysostosis

    Craniofrontonasal dysplasia is a very rare inherited disorder characterized by abnormalities of the head and face (craniofacial area), hands and feet, and certain skeletal bones. Major symptoms of this disorder may include widely spaced eyes (ocular hypertelorism), a groove (cleft) on the tip of the nose, an unusually wide mouth, malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia), such a  Read More

  • Craniofrontonasal syndrome

    Craniofrontonasal dysplasia is a very rare inherited disorder characterized by abnormalities of the head and face (craniofacial area), hands and feet, and certain skeletal bones. Major symptoms of this disorder may include widely spaced eyes (ocular hypertelorism), a groove (cleft) on the tip of the nose, an unusually wide mouth, malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia), such a  Read More

  • Creutzfeldt-jakob disease

    Creutzfeldt-Jakob disease (CJD) is a rare, degenerative, invariably fatal brain disorder. It affects about one person in every one million people per year worldwide; in the United States there are about 200 cases per year. CJD usually appears in later life and runs a rapid course. Typically, onset of symptoms occurs about age 60, and about 90 percent of individuals die within 1 year. In the early stages of disease, people may have failing memo  Read More

  • Cutaneous malignant melanoma, hereditary

    Atypical mole syndrome, also called dysplastic nevus syndrome, is a disorder of the skin characterized by the presence of many mole-like tumors (nevi). Most people have 10-20 moles over their bodies. People with this syndrome often have more than 100 moles, at least some of which are unusual (atypical) in size and structure. These moles vary in size, location, and coloring. They are usually larger than normal moles (5mm or more in diameter) an  Read More

  • Cyclic hematopoiesis

    Cyclic neutropenia is a rare blood disorder characterized by recurrent episodes of abnormally low levels of certain white blood cells (neutrophils) in the body. Neutrophils are instrumental in fighting off infection by surrounding and destroying bacteria that enter the body. Symptoms associated with cyclic neutropenia may include fever, a general feeling of ill health (malaise), and/or sores (ulcers) of the mucous membranes of the mouth. In mo  Read More

  • Cystoid macular degeneration

    Best vitelliform macular dystrophy is an autosomal dominant genetic form of macular degeneration that usually begins in childhood or adolescence and slowly progresses to affect central vision. The age of onset and severity of vision loss are highly variable. Best vitelliform macular dystrophy is associated with an abnormality in the VMD2 gene.  Read More

  • Cysts, arachnoid

    Arachnoid cysts are fluid-filled sacs that occur on the arachnoid membrane that covers the brain (intracranial) and the spinal cord (spinal). There are three membranes covering these parts of the central nervous system: the dura mater, arachnoid, and pia mater. Arachnoid cysts appear on the arachnoid membrane, and they may also expand into the space between the pia mater and arachnoid membranes (subarachnoid space). The most common locations f  Read More

  • Dancing eyes-dancing feet

    Opsoclonus-myoclonus syndrome (OMS) is a paraneoplastic neurological disorder. It is characterized by associated ocular, motor, behavioral, sleep, and language disturbances. The onset is usually abrupt, often severe, and can become chronic.  Read More

  • Dawson's disease

    Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to the measles virus. SSPE usually develops 2 to 10 years after the original viral attack. Initial symptoms may include memory loss, irritability, seizures, involuntary muscle movements, and/or behavioral  Read More

  • Dawson's encephalitis

    Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to the measles virus. SSPE usually develops 2 to 10 years after the original viral attack. Initial symptoms may include memory loss, irritability, seizures, involuntary muscle movements, and/or behavioral  Read More

  • De lange syndrome

    Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings typically include delays in physical development before and after birth (prenatal and postnatal growth retardation); characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance; malformations of the hands and arms (upper limbs); and mild to severe mental  Read More

  • De morsier syndrome

    The syndrome of optic nerve hypoplasia (ONH), also known as septooptic dysplasia (SOD) or DeMorsier syndrome, is a congenital disorder characterized by underdevelopment (hypoplasia) of the optic nerves. The optic nerves transmit impulses from the nerve-rich membranes lining the retina of the eye to the brain. Children with ONH may have brain and pituitary malformations. Abnormalities of structures of the brain may include hypoplasia of the cor  Read More

  • De-efferented state

    Locked-in syndrome is a rare neurological disorder in which there is complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. Individuals with locked-in syndrome are conscious and awake, but have no ability to produce movements (outside of eye movement) or to speak (aphonia). Cognitive function is usually unaffected. Communication is possible through eye movements or blinking. Locked-in syndrome i  Read More

  • Degenerative chorea

    Huntington's disease is a genetic, progressive, neurodegenerative disorder characterized by the gradual development of involuntary muscle movements affecting the hands, feet, face, and trunk and progressive deterioration of cognitive processes and memory (dementia). Neurologic movement abnormalities may include uncontrolled, irregular, rapid, jerky movements (chorea) and athetosis, a condition characterized by relatively slow, writhing involun  Read More

  • Degos-kohlmeier disease

    Degos disease is an extremely rare disorder in which small and medium sized arteries become blocked (occlusive arteriopathy), restricting the flow of blood to affected areas. Degos disease usually causes characteristic skin lesions that may last for a period of time ranging from weeks to years. In some individuals, Degos disease will be limited to the skin (benign cutaneous Degos disease); other individuals will also develop symptoms affecting  Read More

  • Diencephalic syndrome of childhood

    The diencephalic syndrome is a very rare neurological disorder characterized by failure to thrive, abnormal thinness (emaciation), amnesia, intense sleepiness, unusual eye position and sometimes blindness. It is normally seen in infancy or early childhood but some cases have been reported in older children and even adults. Diencephalic syndrome is usually caused by a brain tumor such as a low-grade glioma or astrocytoma.  Read More

  • Diencephalic syndrome of emaciation

    The diencephalic syndrome is a very rare neurological disorder characterized by failure to thrive, abnormal thinness (emaciation), amnesia, intense sleepiness, unusual eye position and sometimes blindness. It is normally seen in infancy or early childhood but some cases have been reported in older children and even adults. Diencephalic syndrome is usually caused by a brain tumor such as a low-grade glioma or astrocytoma.  Read More

  • Dmc disease

    Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. The condition was first reported by Dyggve, Melchior and Clausen in 1962 in three of eight siblings where the father was the mother's paternal uncle. Because of physical appearance and the present of acid mucopolysaccharides in the urine, Dyggve believed that their affected pat  Read More

  • Duchenne's paralysis

    Duchenne's paralysis is also known as Brachial plexus palsy and Erb's palsy. This disease is one type of paralysis in the arm, which is caused by an injury to nerves that control and supply the muscles of the shoulder and upper extremities. 1. This disease is commonly seen in newborns and may cause difficult deliveries. 2. In adults, the cause of this disease is typically an injury that has caused stretching  Read More

  • Dupuy's syndrome

    Frey syndrome is a rare disorder that most often occurs as a result of surgery in the area near the parotid glands. The parotid glands are the largest salivary glands in the body located just below the ears on either side of the face. The main symptoms of Frey syndrome are undesirable sweating and flushing occurring on the cheek, temple (temporal region), or behind the ears (retroauricular region) after eating certain foods, especially those t  Read More

  • Dural endothelioma

    Meningiomas are benign, slow-growing tumors, classified as brain tumors, but actually growing in the three protective membranes that surround the brain (meninges). Sometimes they cause thickening or thinning of adjoining skull bones. Meningiomas do not spread to other areas of the body.  Read More

  • Dutch-kennedy syndrome

    Trismus-Pseudocamptodactyly Syndrome is a very rare inherited disorder characterized by the inability to completely open the mouth (trismus), causing difficulty with chewing (mastication) and/or the presence of abnormally short muscle-tendon units in the fingers, causing the fingers to curve or bend (camptodactyly) when the hand is bent back at the wrist (dorsiflexion). Because the fingers are not permanently bent or curved, this particular fi  Read More

  • Dysmyelogenic leukodystrophy

    Alexander disease is named after the physician who first described the condition in 1949 (WS Alexander). It is an extremely rare, usually progressive and fatal, neurological disorder. Initially, it was detected most often during infancy or early childhood, but as better diagnostic tools have become available has been found to occur with similar frequency at all stages of life. Alexander disease has historically been included among the leukodys  Read More

  • Eaton-lambert syndrome

    Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disorder characterized by the gradual onset of muscle weakness, especially of the pelvic and thigh muscles. Approximately 60 percent of LEMS cases are associated with a small cell lung cancer (SCLC), and the onset of LEMS symptoms often precedes the detection of the cancer. The LEMS patients with cancer tend to be older and nearly always have a long history of smoking. In cases in w  Read More

  • Eec syndrome

    Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another. Affected individuals often have abnormalities affecting the limbs including ectrodactyly, a condition in which part or all of the central digits (fingers or toes) are missing. Ectrodactyly often affects the middle fingers or toes, but can present differently in different people (or be absent altoge  Read More

  • Empty sella turcica

    Empty sella syndrome is a rare disorder characterized by enlargement or malformation of a structure in the head known as the sella turcica. The sella turcica is a saddle-shaped depression located in the bone at the base of skull (sphenoid bone), in which resides the pituitary gland. In empty sella syndrome, the malformed sella turcica is often either partially or completely filled with cerebrospinal fluid. As a result, the pituitary gland is o  Read More

  • Encephalitis and meningitis

    Encephalitis is an inflammation of the brain. Meningitis is an inflammation of the membranes (called meninges) that surround the brain and spinal cord. Both infections can be caused by bacteria or viruses and rarely a fungus. Headache and fever are the most common symptoms of encephalitis and meningitis. Stiff neck, confusion, or lethargy can also be present. The diagnosis is usually made by performing a lumb  Read More

  • Encephalitis, herpes simplex

    Herpes simplex encephalitis (HSE) is a rare neurological disorder characterized by inflammation of the brain (encephalitis). Common symptoms include headaches, fevers, drowsiness, hyperactivity, and/or general weakness. The disorder may have some symptoms similar to those associated with meningitis, such as a stiff neck, altered reflexes, confusion, and/or speech abnormalities. Skin lesions usually are not found in association with herpes simp  Read More

  • Encephalitis, japanese

    Japanese Encephalitis is a severe inflammation of the brain caused by the Japanese B Encephalitis Virus that is transmitted by the bite of infected mosquitoes in certain areas of the world, particularly Asia. This disorder most commonly affects children and tends to be more actively spread during the summer. Symptoms include high fever, headaches, weakness, nausea, vomiting, paralysis, personality changes, and coma, possibly leading to neurolo  Read More

  • Encephalitis, rasmussen's

    Rasmussen encephalitis, sometimes referred to as Rasmussen syndrome, is a rare disorder of the central nervous system characterized by chronic inflammation (encephalitis) of one hemisphere of the brain. As a result, the patient experiences frequent episodes of uncontrolled electrical disturbances in the brain that cause epileptic seizures (epilepsy). Further symptoms may include progressive weakness of one side of the body (hemiparesis), langu  Read More

  • Encephalocele

    Encephaloceles are rare birth defects associated with skull defects characterized by partial lacking of bone fusion leaving a gap through which a portion of the brain sticks out (protrudes). In some cases, cerebrospinal fluid or the membranes that cover the brain (meninges) may also protrude through this gap. The portion of the brain that sticks outside the skull is usually covered by skin or a thin membrane so that the defect resembles a smal  Read More

  • Endocrine tumors, carcinoid type

    Carcinoid syndrome is a disease consisting of a combination of symptoms, physical manifestations, and abnormal laboratory findings. Carcinoid syndrome is seen in individuals who have an underlying carcinoid tumour with spread to the liver. Carcinoid tumors are well-differentiated neuroendocrine tumours with secretory properties, releasing serotonin, along with a number of other active peptides. These tumors can arise anywhere along the primiti  Read More

  • Epilepsy

    Epilepsy is a central nervous system (neurological) disorder in which brain activity becomes abnormal, causing seizures or periods of unusual behavior, sensations and sometimes loss of awareness. Anyone can develop epilepsy. Epilepsy affects both males and females of all races, ethnic backgrounds and ages. Seizure symptoms can vary widely. Some people with epilepsy simply stare blankly  Read More

  • Epilepsy and multiple subpial transection (mst)

    Sometimes brain seizures begin in a vital area of the brain -- for example, in areas that control movement, feeling, language, or memory. When this is the case, a relatively new epilepsy treatment called multiple subpial transection (MST) may be an option. MST stops the seizure impulses by cutting nerve fibers in the outer layers of the brain (gray matter), sparing the vital functions concentrated in the deeper layers of brain tissue (white ma  Read More

  • Epilepsy and temporal lobe resection

    The largest part of the brain, the cerebrum, is divided into four paired sections -- the frontal, parietal, occipital, and temporal lobes. Each lobe controls a specific group of activities. The temporal lobe, located on either side of the brain just above the ear, plays an important role in hearing, language, and memory. In people with temporal lobe epilepsy, the area where the seizures start -- called the seizure focus -- is located within th  Read More

  • Epilepsy, myoclonic progressive familial

    Progressive myoclonus epilepsy (PME) is a group of conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). Patients may have more than one type of seizure, such as petit mal or grand mal. PME is progressive, but the rate of progression  Read More

  • Epilepsy: extratemporal cortical resection

    The largest part of the brain, the cerebrum, is divided into four paired sections, called lobes -- the frontal, parietal, occipital, and temporal lobes. Each lobe controls a specific group of activities. With temporal lobe epilepsy, which is the most common type of epilepsy in teens and adults, the area where the seizures start -- called the seizure focus -- is located within the temporal lobe. However, seizures can start in any portion of the  Read More

  • Epilepsy: vagus nerve stimulation (vns)

    Vagus nerve stimulation (VNS) is a technique used to treat epilepsy. It involves implanting a pacemaker-like device that generates pulses of electricity to stimulate the vagus nerve. The vagus nerve is one of the 12 cranial nerves, the paired nerves that attach to the undersurface of the brain and relay information to and from the brain. Cranial nerve fibers conduct impulses between the brain and other parts of the brain and various body struc  Read More

  • Erb-duchenne palsy

    Brachial plexus palsy, also known as Erb's palsy, is a paralysis or weakness of the arm caused by an injury to one or more nerves that control and supply the muscles of the shoulder and upper extremities (upper brachial plexus). It is more commonly seen in newborns (neonates) and is often the result of a difficult delivery. When it occurs in adults, the cause typically is an injury that has caused stretching, tearing or other trauma to the bra  Read More

  • Facio-auriculo-vertebral spectrum

    Oculo-auriculo-vertebral spectrum (OAVS) refers to three rare disorders that many clinicians believe to be intimately related to one another and which represent the range of severity of the same disorder. These disorders are apparent at birth (congenital). As the name suggests, they involve malformations of the eyes, ears and spine. Oculo-auriculo-vertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenha  Read More

  • Faciogenital dysplasia

    Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild intellectual disability.  Read More

  • Fahr disease

    Familial idiopathic basal ganglia calcification (FIBGC) is a rare neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) of unknown cause. Associated symptoms include progressive deterioration of cognitive abilities (dementia), loss of contact with reality (psychosis), mood swings and loss of acquired motor skills. As the condition progresses, paralysis may develop that is associated with increased mu  Read More

  • Fahr's disease

    Risk factors of Fahr’s disease: 1. Fahr's disease is a hereditary genetic condition marked by abnormal calcium deposits in parts of the brain that regulate movement. 2. Basal ganglia, cerebral, and cortical regions (parts of the brain) have calcium deposits that cause atrophy. 3. Motor and mental problems result from the considerable neuron (brain cell) loss caused by this mineral deposit.  Read More

  • Familial alobar holoprosencephaly

    Holoprosencephaly (HPE) is the failure of the prosencephalon, or forebrain, to develop normally. The forebrain is a region of the brain in the fetus that develops into parts of the adult brain, including the cerebral cortex. Instead of the normal complete separation of the left and right halves of the forebrain, there is an abnormal continuity between the two sides. There are several different types of holoprosencephaly. In the alobar fo  Read More

  • Fothergill disease

    Trigeminal neuralgia, also known as tic douloureux, is a disorder of the fifth cranial nerve (trigeminal nerve) characterized by attacks of intense, stabbing pain affecting the mouth, cheek, nose, and/or other areas on one side of the face. The exact cause of trigeminal neuralgia is not fully understood.  Read More

  • Francois dyscephaly syndrome

    Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye abnormalities; dental defects; degenerative skin changes (atrophy), particularly in the scalp and nasal regions; and proportionate short stature. Characteristic craniofacial features include a short, broad head (brachycephaly) with an unusually  Read More

  • Friedreich's tabes

    Friedreich's Ataxia is a genetic, progressive, neurologic movement disorder that typically becomes apparent before adolescence. Initial symptoms may include unsteady posture, frequent falling, and progressive difficulties walking due to an impaired ability to coordinate voluntary movements (ataxia). Affected individuals may also develop abnormalities of certain reflexes; characteristic foot deformities; increasing incoordination of the arms an  Read More

  • Frontofacionasal dysplasia

    Frontofacionasal dysplasia is a rare genetic disorder that is apparent at birth (congenital). The disorder is primarily characterized by malformations of the head and facial (craniofacial) area and eye (ocular) defects. Craniofacial malformations may include an unusually short, broad head (brachycephaly); incomplete closure of the roof of the mouth (cleft palate); an abnormal groove in the upper lip (cleft lip); and underdevelopment (hypoplasi  Read More

  • Frontotemporal dementia

    Frontotemporal dementia (FTD), or Pick's disease, is a syndrome featuring shrinking of the frontal and temporal anterior lobes of the brain. The symptoms of frontotemporal dementia fall into two clinical patterns that involve either: (1) changes in behavior, or (2) problems with language. Frontotemporal dementia is often inherited and runs in families. There is no treatment for frontotemporal dementia and tre  Read More

  • Galactosyl ceramide lipidosis

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Galactosylceramidase deficiency

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Galactosylceramide lipidosis

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Galb deficiency

    Schindler disease is a rare inherited metabolic disorder characterized by the deficient activity of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B). The enzyme defect leads to the abnormal accumulation of certain complex compounds (glycosphingolipids, glycoproteins, and oligosaccharides), which have terminal or preterminal N-acetylgalactosaminyl residues in many tissues of the body and in urine. Two m  Read More

  • Gaucher disease

    Gaucher disease is an inherited disorder of metabolism that interferes with many body functions. There are different forms of Gaucher disease. The perinatal lethal form is the most severe type of Gaucher disease. Enlargement of the liver and spleen, anemia, bone abnormalities, and low platelet levels are among the symptoms of Gaucher disease. Gaucher disease occurs in 1 out of every 50,000 to 100,00  Read More

  • Gayet-wernicke syndrome

    Wernicke syndrome and Korsakoff syndrome are related disorders that often occur due to a deficiency of thiamine (vitamin B1). Wernicke's syndrome, also known as Wernicke encephalopathy, is a neurological disease characterized by the clinical triad of confusion, the inability to coordinate voluntary movement (ataxia), and eye (ocular) abnormalities. Korsakoff's syndrome is a mental disorder characterized by disproportionate memory loss in relat  Read More

  • Globoid cell leukoencephalopathy

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Growth hormone receptor deficiency

    Growth hormone insensitivity (GHI) is a group of extremely rare genetic disorders in which the body is unable to use the growth hormone that it produces. GHI can be caused by mutations in the growth hormone receptor (GHR) gene or mutations in genes involved in the action pathway within the cell after the growth hormone binds to its receptor, preventing the production of insulin-like growth factor (IGF-1), the substance responsible for the grow  Read More

  • Guillain-barre syndrome

    Guillain-Barre (gee-YAH-buh-RAY) syndrome is a rare disorder in which your body's immune system attacks your nerves. Weakness and tingling in your extremities are usually the first symptoms. These sensations can quickly spread, eventually paralyzing your whole body. In its most severe form Guillain-Barre syndrome is a medical emergency. Most people with the condition must be hospitalized to receive treatment. The exact cause of  Read More

  • Haddad syndrome

    Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory control with autonomic nervous system dysregulation (ANSD). The autonomic nervous system is the portion of the nervous system that controls or regulates certain involuntary body functions including heart rate, blood pressure, temperature regulation, breathing, bowel and bladder control, and more. Impaired breathing regulation (respiratory control) is the hallm  Read More

  • Hallervorden-spatz syndrome (hss)

    Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is the most common type of neurodegeneration with brain iron accumulation (NBIA), a group of clinical disorders marked by progressive abnormal involuntary movements, alterations in muscle to  Read More

  • Hard syndrome

    Walker-Warburg syndrome (WWS) is a rare multisystem disorder characterized by muscle, brain and eye abnormalities, often leading to death in the first weeks of life. However, the specific symptoms and severity of WWS can vary greatly from case to case. The most consistent features are (1) a smooth appearance of the surface of the brain due to lack of normal folding pattern (lissencephaly or agyria), often with malformations of other brain stru  Read More

  • Harrington syndrome

    Chromosome 10, monosomy 10p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 10 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable, depending upon the exact size or location of the deletion on chromosome 10p. However, associated features often include severe intellectual disability; growth delays after birth (postnatal growth retardation); distin  Read More

  • Hemiplegic migraine

    1. Medication: Medications used to treat hemiplegic migraine include triptans, calcium channel blockers, anticonvulsants, and anti-inflammatory drugs. 2. Lifestyle Changes: Making lifestyle changes such as reducing stress, avoiding triggers, and getting enough sleep can help reduce the frequency and severity of hemiplegic migraine attacks. 3. Physical Therapy: Physical therapy can help improve strength, balance, and c  Read More

  • Hiccups, persistent

    A hiccup is an involuntary spasmodic contraction of the muscle at the base of the lungs (diaphragm) followed by the rapid closure of the vocal cords. Usually, hiccups last for a few hours or, occasionally, a day or two. However, chronic hiccups are ones that continue for an extended period of time. Episodes that last for more than two days and less than a month are sometimes called persistent hiccups. On rare occasions, hiccups persist even lo  Read More

  • Hie syndrome

    Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency disorder. Symptoms often become apparent at birth or early during infancy or childhood. The disorder is characterized by the triad of highly elevated levels of IgE in serum, recurring abscesses of the skin, and recurrent pneumonia AR-HIES is inherited as an autosomal recessive trait and the first symptoms include the development of a dry, red, flaky skin r  Read More

  • Hippel disease (hls)

    Von Hippel-Lindau syndrome (VHL) is an autosomal dominant genetic disorder characterized by the abnormal growth of blood vessels in certain parts of the body (angiomatosis). Very small blood vessels (capillaries) "knot" together to form benign growths known as angiomas or hemangioblastomas. These may develop in the retinas of the eyes (retinal hemangioblastomas) or in the brain or spinal cord, or in the inner ear (endolymphatic sac tumors). Va  Read More

  • Hirschsprung disease syndrome

    Mowat-Wilson syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. MWS is characterized by intellectual disability, distinctive facial features and seizures. Other congenital anomalies occur in some individuals and can include a gastrointestinal disease known as Hirschsprung disease (40-50% of individuals) in which a narrowing of a portion of the colon is present, heart (cardiac) defects, kidney (renal)  Read More

  • Hirschsprung's disease

    Hirschsprung* disease (HD) is a disease of the large intestine that causes severe constipation or intestinal obstruction. Constipation means stool moves through the intestines slower than usual. Bowel movements occur less often than normal and stools are difficult to pass. Some children with Hirschsprung disease can't pass stool at all, which can result in the complete blockage of the intestines, a condition called intestinal obstruction. Peop  Read More

  • Holmes-adie syndrome

    Adie Syndrome is a rare neurological disorder affecting the pupil of the eye. In most patients the pupil is dilated (larger than normal) and slow to react to light on nearby objects. In some patients, however, the pupil may be constricted (smaller than normal) rather than dilated. Absent or poor reflexes are also associated with this disorder. Adie Syndrome is neither progressive nor life threatening, nor is it disabling.  Read More

  • Holocarboxylase synthetase deficiency

    Biotinidase deficiency (BTD) is a treatable, metabolic disorder that is the result of a low concentration, or complete lack, of the enzyme, biotinidase. Biotinidase deficiency is an inherited disorder in which the body is not able to properly process the vitamin, biotin, which is sometimes referred to as Vitamin H. Biotin is an essential vitamin to the metabolic process and biotinidase, among its other functions, allows biotin to become availa  Read More

  • Holoprosencephaly malformation complex

    Holoprosencephaly (HPE) is the failure of the prosencephalon, or forebrain, to develop normally. The forebrain is a region of the brain in the fetus that develops into parts of the adult brain, including the cerebral cortex. Instead of the normal complete separation of the left and right halves of the forebrain, there is an abnormal continuity between the two sides. There are several different types of holoprosencephaly. In the alobar fo  Read More

  • Homogentisic acid oxidase deficiency

    Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may have dark urine or urine that turns black when exposed to air. However, this change may not occur for several hours after urination and often goes unnoticed. Aside from dark urine that is present fro  Read More

  • Horner's syndrome

    Horner syndrome is a relatively rare disorder characterized by a constricted pupil (miosis), drooping of the upper eyelid (ptosis), absence of sweating of the face (anhidrosis), and sinking of the eyeball into the bony cavity that protects the eye (enophthalmos). These are the four classic signs of the disorder. The congenital, and more rare, form of Horner syndrome is present at birth but the cause is not known. Most often, Horner  Read More

  • Huntington's chorea (hd)

    Huntington's disease is a genetic, progressive, neurodegenerative disorder characterized by the gradual development of involuntary muscle movements affecting the hands, feet, face, and trunk and progressive deterioration of cognitive processes and memory (dementia). Neurologic movement abnormalities may include uncontrolled, irregular, rapid, jerky movements (chorea) and athetosis, a condition characterized by relatively slow, writhing involun  Read More

  • Huntington's disease

    Huntington's disease (HD) is a complex disorder that affect's a person's ability to feel, think, and move. Symptoms tend to worsen over time and the disease often runs in families. In people with one parent with HD, the chances of them developing it are 50-50. Huntington's disease is caused by a genetic degeneration of nerve cells in certain areas of the brain. Symptoms of HD include mood swing, irritability, depressio  Read More

  • Hutterite syndrome bowen-conradi type

    Bowen Hutterite syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; malformations of the head and facial (craniofacial) area, resulting in a distinctive appearance; and other physical abnormalities. These may include restricted joint movem  Read More

  • Hyaline membrane disease

    Infant respiratory distress syndrome is a lung disorder that tends to affect premature infants. Major symptoms include difficulty in breathing and collapsed lungs, potentially requiring mechanical ventilation or positive end-expiratory pressure (PEEP).  Read More

  • Hydranencephaly

    Hydranencephaly is a central nervous system disorder characterized by an enlarged head and neurological deficits. The exact cause of Hydranencephaly is not known. This extremely rare form of Hydrocephalus involves the absence of portions of the brain. Results of neurologic examination in newborns may be normal or abnormal. The head usually appears enlarged at birth. Vision impairment, lack of growth and intellectual deficits are symptomatic of  Read More

  • Hydroanencephaly

    Hydranencephaly is a central nervous system disorder characterized by an enlarged head and neurological deficits. The exact cause of Hydranencephaly is not known. This extremely rare form of Hydrocephalus involves the absence of portions of the brain. Results of neurologic examination in newborns may be normal or abnormal. The head usually appears enlarged at birth. Vision impairment, lack of growth and intellectual deficits are symptomatic of  Read More

  • Hydrocephalus

    Hydrocephalus is a condition characterized by excessive accumulation of fluid in the brain. Hydrocephalus may be congenital or acquired. Communicating hydrocephalus occurs when cerebrospinal fluid (CSF) can still flow among the ventricles. Noncommunicating hydrocephalus, also called "obstructive" hydrocephalus, occurs when the flow of CSF is blocked. Hydrocephalus affects about 1 out of every 500 ch  Read More

  • Hydrocephalus, internal dandy-walker type

    Dandy-Walker malformation (DWM) is a brain malformation that occurs during embryonic development of the cerebellum and 4th ventricle. The cerebellum is the area of the brain that helps coordinate movement, and is also involved with cognition and behavior. The 4th ventricle is a space around the cerebellum that channels fluid from inside to around the outside of the brain. DWM is characterized by underdevelopment (small size and abnormal positi  Read More

  • Hydrocephalus, noncommunicating dandy-walker type

    Dandy-Walker malformation (DWM) is a brain malformation that occurs during embryonic development of the cerebellum and 4th ventricle. The cerebellum is the area of the brain that helps coordinate movement, and is also involved with cognition and behavior. The 4th ventricle is a space around the cerebellum that channels fluid from inside to around the outside of the brain. DWM is characterized by underdevelopment (small size and abnormal positi  Read More

  • Hyperammonemia due to carbamylphosphate

    Carbamoyl phosphate synthetase I deficiency (CPSID) is a rare inherited disorder characterized by complete or partial lack of the carbamoyl phosphate synthetase (CPS) enzyme. This is one of five enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of the CPSI enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affect  Read More

  • Hyperammonemia due to ornithine transcarbamylase deficiency

    Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of nitrogen the body, a process known as the urea cycle. The lack of the OTC enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Excess ammonia, wh  Read More

  • Hyperekplexia

    Hyperekplexia is a rare hereditary, neurological disorder that may affect infants as newborns (neonatal) or prior to birth (in utero). It may also affect children and adults. Individuals with this disorder have an excessive startle reaction (eye blinking or body spasms) to sudden unexpected noise, movement, or touch. Symptoms include extreme muscle tension (stiffness or hypertonia) that prevent voluntary movement and can cause the affected per  Read More

  • Hyperexplexia

    Hyperekplexia is a rare hereditary, neurological disorder that may affect infants as newborns (neonatal) or prior to birth (in utero). It may also affect children and adults. Individuals with this disorder have an excessive startle reaction (eye blinking or body spasms) to sudden unexpected noise, movement, or touch. Symptoms include extreme muscle tension (stiffness or hypertonia) that prevent voluntary movement and can cause the affected per  Read More

  • Idiopathic basal ganglia calcification

    Familial idiopathic basal ganglia calcification (FIBGC) is a rare neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) of unknown cause. Associated symptoms include progressive deterioration of cognitive abilities (dementia), loss of contact with reality (psychosis), mood swings and loss of acquired motor skills. As the condition progresses, paralysis may develop that is associated with increased mu  Read More

  • Idiopathic blepharospasm-oromandibular dystonia syndrome

    Meige syndrome is a rare neurological movement disorder characterized by involuntary and often forceful contractions of the muscles of the jaw and tongue (oromandibular dystonia) and involuntary muscle spasms and contractions of the muscles around the eyes (blepharospasm). The specific symptoms and their severity vary from case to case. Meige syndrome belongs to a group of disorders known as dystonia. Dystonia is a group of movemen  Read More

  • Idiopathic brachial plexus neuropathy

    Parsonage-Turner syndrome is a relatively common condition characterized by inflammation of the network of nerves that control and supply (innervate) the muscles of the chest, shoulders, and arms (brachial plexus). Individuals with the condition first experience a sudden onset of severe pain across the shoulder and upper arm. The muscles of the affected shoulder show weakness, wasting (atrophy), and paralysis (atrophic paralysis) within a few  Read More

  • Immunodeficiency with ataxia telangiectasia

    Ataxia telangiectasia (AT) is a complex genetic neurodegenerative disorder that may become apparent during infancy or early childhood. The disorder is characterized by progressively impaired coordination of voluntary movements (ataxia), the development of reddish lesions of the skin and mucous membranes due to permanent widening of groups of blood vessels (telangiectasia), and impaired functioning of the immune system (i.e., cellular and humor  Read More

  • Infantile epileptic encephalopathy

    West syndrome is a type of epilepsy characterized by spasms, abnormal brain wave patterns called hypsarrhythmia and sometimes mental retardation. The spasms that occur may range from violent jackknife or "salaam" movements where the whole body bends in half, or they may be no more than a mild twitching of the shoulder or eye changes. These spasms usually begin in the early months after birth and can sometimes be helped with medication. They ca  Read More

  • Infantile gaucher disease

    Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. Some individuals will develop few or no symp  Read More

  • Infectious chorea

    Sydenham chorea is a rare neurological disorder characterized by rapid, involuntary, purposeless movements, especially of the face, feet and hands. Additional symptoms may include muscle weakness and emotional or behavioral problems. Sydenham chorea most often affects children and adolescents. Sydenham chorea usually develops following Streptococcal infection and may occur as an isolated finding or as a major complication of acute rheumatic fe  Read More

  • Intrathecal baclofen pump therapy for multiple sclerosis (ms)

    What is multiple sclerosis (MS)? Multiple sclerosis (MS) is a disease that causes demyelination of the brain and spinal cord, or a loss of the protective covering around nerve fibers called axons. When this occurs, the axons (the parts of the nerve cells that transmit impulses to other cells) don't work well. As more areas are affected by the loss of myelin, different symptoms develop. The specific symptoms seen in MS are related to th  Read More

  • Isaacs' syndrome

    Acquired neuromyotonia is an inflammatory disorder characterized by abnormal nerve impulses from the peripheral nerves that result in continuous muscle fiber activity. Affected individuals often experience progressive muscle stiffness and cramping especially in the hands and feet, increased sweating, and delayed muscle relaxation. Symptoms may persist even during sleep or under general anesthesia.  Read More

  • Isaacs-merten syndrome

    Acquired neuromyotonia is an inflammatory disorder characterized by abnormal nerve impulses from the peripheral nerves that result in continuous muscle fiber activity. Affected individuals often experience progressive muscle stiffness and cramping especially in the hands and feet, increased sweating, and delayed muscle relaxation. Symptoms may persist even during sleep or under general anesthesia.  Read More

  • Jackknife convulsion

    West syndrome is a type of epilepsy characterized by spasms, abnormal brain wave patterns called hypsarrhythmia and sometimes mental retardation. The spasms that occur may range from violent jackknife or "salaam" movements where the whole body bends in half, or they may be no more than a mild twitching of the shoulder or eye changes. These spasms usually begin in the early months after birth and can sometimes be helped with medication. They ca  Read More

  • Jakob's disease

    Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected individuals may develop confusion, depression, behavioral changes, impaired vision, and/or impaired coordination. As the disease progresses, there may be rapidly progressive deterioration of cognitive pr  Read More

  • Jakob-creutzfeldt disease

    Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected individuals may develop confusion, depression, behavioral changes, impaired vision, and/or impaired coordination. As the disease progresses, there may be rapidly progressive deterioration of cognitive pr  Read More

  • Job syndrome

    Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency disorder. Symptoms often become apparent at birth or early during infancy or childhood. The disorder is characterized by the triad of highly elevated levels of IgE in serum, recurring abscesses of the skin, and recurrent pneumonia AR-HIES is inherited as an autosomal recessive trait and the first symptoms include the development of a dry, red, flaky skin r  Read More

  • Kennedy-stefanis disease

    Kennedy disease is a rare, X-linked slowly progressive neuro-muscular disorder. Kennedy disease is typically an adult-onset disease, where symptoms occur mainly between the ages of 20 and 50. The disease is characterized by symptoms such as muscle weakness and cramps in the arms, legs, and facial area, enlarged breasts, and difficulty with speaking and swallowing (dysphagia). Kennedy disease affects fewer than 1 in 150,000 males and does not t  Read More

  • Kernicterus

    Jaundice in newborns is yellowing of the skin due to excessive bilirubin. Kernicterus is a type of brain damage due to excessive bilirubin in the blood. Signs and symptoms of jaundice include skin yellowing of the face, then chest, abdomen and extremities; the whites of the eyes may become yellowish. Contact your baby's doctor if the skin color becomes yellowish or orange colored, if the baby will not sleep,  Read More

  • Ketotic glycinemia

    Propionic Acidemia is a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical "building blocks" (amino acids) of certain proteins. Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, listlessness (lethargy), excessive loss of fluids from bodily tiss  Read More

  • Kinsbourne syndrome

    Opsoclonus-myoclonus syndrome (OMS) is a paraneoplastic neurological disorder. It is characterized by associated ocular, motor, behavioral, sleep, and language disturbances. The onset is usually abrupt, often severe, and can become chronic.  Read More

  • Kluver bucy syndrome

    Kluver-Bucy syndrome is a very rare cerebral neurological disorder associated with damage to both temporal lobes resulting in abnormalities in memory, social and sexual functioning and idiosyncratic behaviors.  Read More

  • Kohlmeier-degos disease

    Degos disease is an extremely rare disorder in which small and medium sized arteries become blocked (occlusive arteriopathy), restricting the flow of blood to affected areas. Degos disease usually causes characteristic skin lesions that may last for a period of time ranging from weeks to years. In some individuals, Degos disease will be limited to the skin (benign cutaneous Degos disease); other individuals will also develop symptoms affecting  Read More

  • Kok disease

    Hyperekplexia is a rare hereditary, neurological disorder that may affect infants as newborns (neonatal) or prior to birth (in utero). It may also affect children and adults. Individuals with this disorder have an excessive startle reaction (eye blinking or body spasms) to sudden unexpected noise, movement, or touch. Symptoms include extreme muscle tension (stiffness or hypertonia) that prevent voluntary movement and can cause the affected per  Read More

  • L-tryptophan disease

    Eosinophilia myalgia syndrome (EMS) is associated with the ingestion of contaminated L-tryptophan, a dietary supplement often sold in health food stores. The contaminant remains unknown. It is a disease of abrupt onset causing severe, disabling, chronic muscle pain, skin symptoms and other neurotoxic reactions . Diagnosis is not easy and depends on finding unusually high levels of eosinophils (circulating white blood cells) over a period of at  Read More

  • Labyrinthitis

    Labyrinthitis is a disorder that's believed to be caused by an infection that inflames the inner ear (the labyrinth) and the nerves connecting the inner ear to the brain. It's different from a middle ear infection, which is a bacterial infection common in children. Labyrinthitis has many names -- vestibular neuritis, vestibular neuronitis, and neurolabyrinthitis. The term labyrinthitis is used when hearing loss occurs.  Read More

  • Landau kleffner syndrome

    Landau Kleffner syndrome (LKS) is a childhood disorder characterized by the loss of comprehension and expression of verbal language (aphasia) in association with severely abnormal electroencephalic (EEG) findings that often result in seizures.  Read More

  • Leprosy (hansen's disease)

    Leprosy is a slowly developing, progressive disease that damages the skin and nervous system. Leprosy is caused by an infection with Mycobacterium leprae or M. lepromatosis bacteria. Early symptoms begin in cooler areas of the body and include loss of sensation. Signs of leprosy are painless ulcers, skin lesions of hypopigmented macules (flat, pale areas of skin), and eye damage (dryness, reduced blinking). L  Read More

  • Lipidosis sphingomyelin

    Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E). Symptoms of types A and B occur as a result of a deficiency of the enzyme acid sphingomyelinase (ASM), which is needed to break down sphingomyelin, a fatty substance found mostly in the brain and nervous system. This deficiency results in abnormal accumulation of ex  Read More

  • Lipoprotein lipase deficiency

    Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. The deficiency of this enzyme prevents affected individuals from properly digesting certain fats and results in a massive accumulation of fatty droplets called chylomicrons in the circulation (chylomicronemia) and consequently also an increase of the plasma concentration of fatty substances called tr  Read More

  • Livedo reticularis and cerebrovascular

    Sneddon syndrome is a rare progressive disorder affecting the blood vessels characterized by the association of a skin condition and neurological abnormalities. Characteristics include multiple episodes of reduced blood flow to the brain (cerebral ischemia) and bluish net-like patterns of discoloration on the skin surrounding normal- appearing skin (livedo reticularis). Major symptoms may include headache, dizziness, abnormally high blood pres  Read More

  • Lobar atrophy of the brain

    Pick disease is a form of dementia characterized by behavioral changes such as deterioration of social skills and changes in personality. Intellectual impairment, memory loss and language deterioration may also occur. Most cases of Pick disease are sporadic in nature, but a genetic form of the disease is recognized. Although a progressive form of communication impairment (aphasia) may occur as part of Pick disease, people with Pick disease hav  Read More

  • Louis-bar syndrome

    Ataxia telangiectasia (AT) is a complex genetic neurodegenerative disorder that may become apparent during infancy or early childhood. The disorder is characterized by progressively impaired coordination of voluntary movements (ataxia), the development of reddish lesions of the skin and mucous membranes due to permanent widening of groups of blood vessels (telangiectasia), and impaired functioning of the immune system (i.e., cellular and humor  Read More

  • Low potassium (hypokalemia)

    If you have hypokalemia, that means you have low levels of potassium in your blood. Potassium is a mineral your body needs to work normally. It helps muscles to move, cells to get the nutrients they need, and nerves to send their signals. It’s especially important for cells in your heart. It also helps keep your blood pressure from getting too high.  Read More

  • Lowe's disease

    Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with intellectual disabilities. Lowe syndrome is inherited as an X-linked genetic condition.  Read More

  • Lowe-bickel syndrome

    Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with intellectual disabilities. Lowe syndrome is inherited as an X-linked genetic condition.  Read More

  • Lubs syndrome

    Androgen insensitivity refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells that receives the androgen hormone and instructs the cell in how to use it. Partial androgen insensitivity syndrome (pais) is part of a spectrum of syndromes that also includes androgen ins  Read More

  • Lupus

    Systemic lupus erythematosus (SLE) is an autoimmune disease. SLE is characterized by the production of unusual antibodies in the blood. SLE is eight times more common in women than men. The cause(s) of SLE is (are) unknown, however, heredity, viruses, ultraviolet light, and drugs all may play some role. Up to 10% of people with lupus isolated to the skin will develop the systemic form of lupus (SLE)  Read More

  • Lymphedema hereditary

    Hereditary lymphedema is a genetic developmental disorder affecting the lymphatic system. It is characterized by swelling (edema) of certain parts of the body. The lymphatic system is a circulatory network of vessels, ducts, and nodes that filter and distribute certain protein-rich fluid (lymph) and blood cells throughout the body. In hereditary lymphedema, lymphatic fluid collects in the subcutaneous tissues under the epidermis due to obstruc  Read More

  • Meningitis

    Encephalitis is an inflammation of the brain. Meningitis is an inflammation of the membranes (called meninges) that surround the brain and spinal cord. Both infections can be caused by bacteria or viruses and rarely a fungus. Headache and fever are the most common symptoms of encephalitis and meningitis. Stiff neck, confusion, or lethargy can also be present. The diagnosis is usually made by perform  Read More

  • Menstrual migraine

    Menstrual migraine is a type of migraine headache that occurs in women around the time of their menstrual period. It is estimated that up to 60% of women with migraine experience menstrual migraine, which is more severe and lasts longer than other types of migraine. Symptoms of menstrual migraine include throbbing or pulsing pain on one side of the head, nausea, vomiting, and sensitivity to light and sound. Treatment options include lifestyle  Read More

  • Migraine with aura

    Migraine with aura is a type of migraine headache that is preceded or accompanied by sensory disturbances, such as flashes of light, blind spots, or tingling in your arm or leg. These symptoms, known as an aura, usually occur 10 to 30 minutes before the headache and can last up to an hour.  Read More

  • Migraine without aura

    Migraine without aura is a type of migraine headache that does not include any of the sensory disturbances known as aura. It is the most common type of migraine, and it is characterized by a throbbing or pulsing headache that can last from four to 72 hours. Symptoms may include nausea, vomiting, sensitivity to light and sound, and pain on one side of the head.  Read More

  • Mononeuritis multiplex

    Peripheral neuropathy is an umbrella term that denotes a disorder of, or damage to, the peripheral nervous system. The peripheral nervous system consists of all the motor and sensory nerves that connect the brain and spinal cord to the rest of the body (i.e., the nerves outside the central nervous system). The symptoms and physical findings associated with peripheral neuropathies vary greatly from case to case and may be extremely complex.  Read More

  • Mononeuritis peripheral

    Peripheral neuropathy is an umbrella term that denotes a disorder of, or damage to, the peripheral nervous system. The peripheral nervous system consists of all the motor and sensory nerves that connect the brain and spinal cord to the rest of the body (i.e., the nerves outside the central nervous system). The symptoms and physical findings associated with peripheral neuropathies vary greatly from case to case and may be extremely complex.  Read More

  • Mononeuropathym peripheral

    Peripheral neuropathy is an umbrella term that denotes a disorder of, or damage to, the peripheral nervous system. The peripheral nervous system consists of all the motor and sensory nerves that connect the brain and spinal cord to the rest of the body (i.e., the nerves outside the central nervous system). The symptoms and physical findings associated with peripheral neuropathies vary greatly from case to case and may be extremely complex.  Read More

  • Monosomy 3p2

    Chromosome 3, Monosomy 3p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 3 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable. However, associated features often include growth delays before and after birth (prenatal and postnatal growth deficiency); severe to profound mental retardation; distinctive malformations of the skull and facial (crani  Read More

  • Morvan disease -- neuropathy hereditary ...

    Hereditary sensory and autonomic neuropathy type II (HSAN2) is a rare genetic disorder that usually begins in childhood by affecting the nerves that serve the lower legs and feet and the lower arms and hands. Symptoms start with inflamed fingers or toes, especially around the nails. Numbness and tingling sensations in the hands and feet may also occur. Eventually, affected individuals lose feeling (sensation) in the hands and feet. This sensor  Read More

  • Motoneuron disease

    Symptoms of Motor Neuron Disease are as follows:1. Amyotrophic Lateral Sclerosis: ALS influences your upper as well as your lower motor neurons. Gradually, your control over the muscles that aid you in walking, speaking, chewing, swallowing and breathing is lost. They grow weaker and waste away as time passes. You could experience stiffness and twitches in the muscles.2. Primary Lateral Sclerosis: PLS o  Read More

  • Motoneurone disease

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  • Motor neuron disease

    Motor neuron disease comprises a group of severe disorders of the nervous system characterized by progressive degeneration of motor neurons (neurons are the basic nerve cells that combine to form nerves). Motor neurons control the behavior of muscles. Motor neuron diseases may affect the upper motor neurons, nerves that lead from the brain to the medulla (a part of the brain stem) or to the spinal cord, or the lower motor neurons, nerves that  Read More

  • Motor neuron syndrome

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  • Motor neurone disease

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  • Moya-moya disease

    Moyamoya syndrome is a progressive disorder that affects the blood vessels in the brain (cerebrovascular). It is characterized by the narrowing (stenosis) and/or closing (occlusion) of the carotid artery inside the skull, the major artery that delivers blood to the brain. At the same time, tiny blood vessels at the base of the brain open up in an apparent attempt to supply blood to the brain distal to the blockage. These tiny vessels are the "  Read More

  • Moyamoya syndrome

    Moyamoya syndrome is defined as a progressive condition that disturbs the blood vessels in the brain. One of its earliest signs of evidence is stenosis or occlusion of the carotid artery present in the skull. Simultaneously, this blockage of blood impels the minute blood vessels at the base of the brain open up. It is said to be an attempt to improve the blood supply. The tiny blood vessels --named moyamoya-- give the disease  Read More

  • Mps disorder iii

    The Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of the lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. High concentrations of mucopolysaccharides in the cells of the central nervous system, including the brain, cause the neurological and developmental deficits that accompany these disorders.  Read More

  • Mucolipidosis i

    Sialidosis, also known as mucolipidosis type I, is a rare inherited metabolic disorder characterized by a deficiency of the enzyme neuraminidase (sometimes referred to as sialidase). Deficiency of neuraminidase results in the abnormal accumulation of toxic materials in the body. Sialidosis is divided into two types (i.e., type I and type II). Sialidosis type I usually becomes apparent during the second decade of life with the development of su  Read More

  • Mucopolysaccharidosis iv

    Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively. A deficiency of either enzyme leads to the accumulation of mucopolysaccharides in the body, abnormal skeletal development, and additional symptoms. In most cases, individuals  Read More

  • Mucopolysaccharidosis type iii

    The Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of the lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. High concentrations of mucopolysaccharides in the cells of the central nervous system, including the brain, cause the neurological and developmental deficits that accompany these disorders.  Read More

  • Mulibrey nanism syndrome (perheentupa sy...)

    Mulibrey nanism is an extremely rare autosomal recessive genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e. Nanism is another word for dwarfism. A characteristic feature not included in the original acronym is the overgrowth of the fibrous sac that surrounds the heart restricting normal filling of t  Read More

  • Multi-infarct dementia binswanger's type

    Binswanger disease is a progressive neurological disorder caused by arteriosclerosis and thromboembolism affecting the blood vessels that supply the white-matter and deep structures of the brain (basal ganglia and thalamus). Most patients experience progressive loss of memory and intellectual abilities (dementia), urinary urgency or incontinence, and an abnormally slow, shuffling, unsteady pattern of walking, usually over a 5-10 year period. D  Read More

  • Multiple peripheral neuritis

    Peripheral neuropathy is an umbrella term that denotes a disorder of, or damage to, the peripheral nervous system. The peripheral nervous system consists of all the motor and sensory nerves that connect the brain and spinal cord to the rest of the body (i.e., the nerves outside the central nervous system). The symptoms and physical findings associated with peripheral neuropathies vary greatly from case to case and may be extremely complex.  Read More

  • Multiple pterygium syndrome

    Multiple pterygium syndrome is a very rare genetic disorder characterized by minor facial anomalies, short stature, vertebral defects, multiple joints in a fixed position (contractures) and webbing (pterygia) of the neck, inside bend of the elbows, back of the knees, armpits and fingers. Multiple pterygium syndrome usually follows autosomal recessive inheritance but can also follow autosomal dominant inheritance.  Read More

  • Multiple sclerosis

    Multiple sclerosis (MS) is a disease that causes demyelination (disruption of the myelin that insulates and protects nerve cells) of spinal nerve and brain cells. Although the exact case is unknown, multiple sclerosis is considered to be an autoimmune disease. Risk factors for the disease include being between 15-45 years of age; women have about two to three times the risk for multiple sclerosis than men. Mu  Read More

  • Multiple sclerosis (ms)

    Multiple sclerosis (MS) is a disease that causes demyelination (disruption of the myelin that insulates and protects nerve cells) of spinal nerve and brain cells. Although the exact case is unknown, multiple sclerosis is considered to be an autoimmune disease. Risk factors for the disease include being between 15-45 years of age; women have about two to three times the risk for multiple sclerosis than men. Mu  Read More

  • Mulvihill smith syndrome

    Mulvihill-Smith syndrome is an extremely rare disorder characterized by low birth weight; growth delays leading to short stature (dwarfism); and/or a prematurely aged facial appearance. Other findings may include additional abnormalities of the head and facial (craniofacial) areas, multiple deeply-colored skin lesions (pigmented nevi), hearing impairment, and/or mental retardation. Eventually, some affected individuals may develop diminished c  Read More

  • MuSK-MG

    MuSK-MG (Myasthenia Gravis with Muscle-Specific Kinase Antibody) is an autoimmune disorder that affects the neuromuscular junction. It is caused by the production of antibodies against the muscle-specific kinase (MuSK) protein, which is involved in the formation and maintenance of the neuromuscular junction. Symptoms of MuSK-MG include muscle weakness, fatigue, and difficulty with eye movements. Treatment typically involves the use of immunosu  Read More

  • Myasthenia gravis

    Myasthenia Gravis is an autoimmune disorder that affects the muscles and nerves. It causes weakness in the skeletal muscles, which are the muscles that control movement. Symptoms of Myasthenia Gravis include drooping eyelids, double vision, difficulty speaking, difficulty swallowing, and muscle weakness. Treatment for Myasthenia Gravis includes medications, surgery, and lifestyle changes.  Read More

  • Myelin oligodendrocyte glycoprotein antibody

    Myelin oligodendrocyte glycoprotein (MOG) antibody is an antibody that is found in the blood of some people with multiple sclerosis (MS) and other neurological disorders. It is believed to be involved in the autoimmune attack on the myelin sheath, which is the protective coating around nerve cells. The presence of MOG antibodies in the blood can help diagnose MS and other neurological disorders.  Read More

  • Necrotizing encephalomyelopathy of leigh

    Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh syndrome usually begin between the ages of three months and two years. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizur  Read More

  • Neill-dingwall syndrome

    Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation, i.e. short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematurely aged appearance (progeria). In the classical form of Cockayne Syndrome (CS type I) the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenit  Read More

  • Nephritis and nerve deafness hereditary

    Alport syndrome is a group of hereditary disorders characterized by progressive deterioration of parts of the kidney known as basement membranes. This deterioration may lead to chronic kidney (renal) disease. Eventually, severe renal failure (end-stage renal disease or ESRD) may develop. Some types of Alport syndrome may also affect vision and hearing. Most cases of Alport syndrome have an X-linked pattern of inheritance.  Read More

  • Nerve disease and bladder control

    For the urinary system to do its job, muscles and nerves must work together to hold urine in the bladder and then release it at the right time. Nerves carry messages from the bladder to the brain to let it know when the bladder is full. They also carry messages from the brain to the bladder, telling muscles either to tighten or release. A nerve problem might affect your bladder control if the nerves that are supposed to carry messages between  Read More

  • Neuromusculardisease

    Neuromuscular disease is a group of disorders that affect the nerves that control voluntary muscle movement. These disorders can cause weakness, paralysis, and even death. Examples of neuromuscular diseases include amyotrophic lateral sclerosis (ALS), muscular dystrophy, and myasthenia gravis.  Read More

  • Nigrospinodentatal degeneration

    Machado-Joseph Disease (MJD-III), also called spinocerebellar ataxia type III, is a rare, inherited, ataxia (lack of muscular control) affecting the central nervous system and characterized by the slow degeneration of particular areas of the brain called the hindbrain. Patients with MJD may eventually become crippled and/or paralyzed but their intellect remains intact. The onset of symptoms of MJD varies from early teens to late adulthood.  Read More

  • Nonketotic hyperglycinemia

    Nonketotic hyperglycinemia is an inborn error of metabolism characterized by the accumulation of large amounts of the amino acid glycine in blood, urine and, particularly, the cerebrospinal fluid (CSF). The metabolic block occurs in the conversion of glycine into smaller molecules. There are four forms of this disorder: a relatively common neonatal form, an infantile form, a mild-episodic form, and a late-onset form.  Read More

  • Norrbottnian gaucher disease

    Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. Some individuals will develop few or no symp  Read More

  • Nyhan syndrome

    Lesch-Nyhan syndrome is a rare inborn error of purine metabolism characterized by the absence or deficiency of the activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Purines are nitrogen-containing compounds found in many foods (e.g., organ meats, poultry, and legumes). In the absence of HPRT, the purines hypoxanthine and guanine are not built into nucleotides. Uric acid levels are abnormally high in people with Lesc  Read More

  • Occlusive peripheral vascular disease

    Buerger's disease, also known as thromboangiitis obliterans, is a rare disorder that, in most cases, affects young or middle-aged male cigarette smokers. It is characterized by narrowing or blockage (occlusion) of the veins and arteries of the extremities, resulting in reduced blood flow to these areas (peripheral vascular disease). The legs are affected more often than the arms. In most cases, the first symptom is extreme pain of the lower ar  Read More

  • Oculosympathetic palsy

    Horner syndrome is a relatively rare disorder characterized by a constricted pupil (miosis), drooping of the upper eyelid (ptosis), absence of sweating of the face (anhidrosis), and sinking of the eyeball into the bony cavity that protects the eye (enophthalmos). These are the four classic signs of the disorder. The congenital, and more rare, form of Horner syndrome is present at birth but the cause is not known. Most often, Horner  Read More

  • Ondine curse, congenital

    Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory control with autonomic nervous system dysregulation (ANSD). The autonomic nervous system is the portion of the nervous system that controls or regulates certain involuntary body functions including heart rate, blood pressure, temperature regulation, breathing, bowel and bladder control, and more. Impaired breathing regulation (respiratory control) is the hallm  Read More

  • Ophthalmoplegia, painful

    Tolosa-Hunt syndrome is a rare disorder characterized by severe periorbital headaches, along with decreased and painful eye movements (ophthalmoplegia). Symptoms usually affect only one eye (unilateral). In most cases, affected individuals experience intense sharp pain and decreased eye movements. Symptoms often will subside without intervention (spontaneous remission) and may recur without a distinct pattern (randomly). Affected individuals m  Read More

  • Ophthalmoplegia, recurrent

    Tolosa-Hunt syndrome is a rare disorder characterized by severe periorbital headaches, along with decreased and painful eye movements (ophthalmoplegia). Symptoms usually affect only one eye (unilateral). In most cases, affected individuals experience intense sharp pain and decreased eye movements. Symptoms often will subside without intervention (spontaneous remission) and may recur without a distinct pattern (randomly). Affected individuals m  Read More

  • Opthalmoneuromyelitis

    Neuromyelitis optica, also known as Devic disease (DD), is a chronic disorder of nerve tissue characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). There appear to be two forms of this disease. In the classical, but less common monophasic type, one or both optic nerves and the spinal cord are affected by a series of attacks over a short period of time (days or weeks) but, after the in  Read More

  • Optic nerve papillitis

    Papillitis, also known as optic neuritis, is characterized by inflammation and deterioration of the portion of the optic nerve known as the optic disk. Also referred to as the "blind spot," the optic disk (optic papilla) is that portion of the optic nerve that enters the eye and joins with the nerve-rich membrane lining the eye (retina). The optic nerves are the pair of nerves (second cranial nerves) that transmit impulses from the retina to t  Read More

  • Optic neuromyelitis

    Neuromyelitis optica, also known as Devic disease (DD), is a chronic disorder of nerve tissue characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). There appear to be two forms of this disease. In the classical, but less common monophasic type, one or both optic nerves and the spinal cord are affected by a series of attacks over a short period of time (days or weeks) but, after the in  Read More

  • Opticomyelitis

    Neuromyelitis optica, also known as Devic disease (DD), is a chronic disorder of nerve tissue characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). There appear to be two forms of this disease. In the classical, but less common monophasic type, one or both optic nerves and the spinal cord are affected by a series of attacks over a short period of time (days or weeks) but, after the in  Read More

  • Oxalosis

    Hyperoxaluria occurs when you have too much oxalate in your urine. Oxalate is a natural chemical in your body, and it's also found in certain types of food. But too much oxalate in your urine can cause serious problems. Hyperoxaluria can be caused by inherited (genetic) disorders, an intestinal disease or eating too many oxalate-rich foods. The long-term health of your kidneys depends on early diagnosis and prompt treatment of hyperoxa  Read More

  • Pain management and nerve blocks

    Nerve blocks are used for pain treatment and management. There are several different types of nerve blocks that serve different purposes. Often a group of nerves, called a plexus or ganglion, that causes pain to a specific organ or body region can be blocked with the injection of medication into a specific area of the body. The injection of this nerve-numbing substance is called a nerve block. How Are Nerve Blocks Used?  Read More

  • Pandas (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections)

    Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) facts PANDAS is an acronym for "pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections." It is a fairly recently described disorder (1990s). An autoimmune response to a streptococcal infection causes PANDAS. It is diagnosed if there is a history of abruptly developing a  Read More

  • Parkinson's disease

    Parkinson's disease is a progressive, disabling disease that can rob people of the ability to walk and cause other movement problems. There is no known cure, but medications can slow the progress of Parkinson's. Researchers are predicting that by 2030, the number of people over age 50 diagnosed with Parkinson's disease in 15 of the most populous countries worldwide will double, to 8.7 million. In the United States, about 60,000  Read More

  • Parkinson's disease and progressive supranuclear palsy

    Progressive supranuclear palsy, or PSP, is a rare neurodegenerative disease that is often misdiagnosed as Parkinson's disease because it carries similar symptoms. Because of its rarity, PSP is mostly unknown by the general public.  Read More

  • Pathogenic autoantibodies

    Pathogenic autoantibodies are antibodies that are produced by the body's immune system and mistakenly attack healthy cells, tissues, and organs. These autoantibodies can cause a variety of autoimmune diseases, such as lupus, rheumatoid arthritis, and multiple sclerosis.  Read More

  • Peripheral neuropathy

    Peripheral neuropathy is disorder of nerve(s) apart from the brain and spinal cord. Patients with peripheral neuropathy may have tingling, numbness, unusual sensations, weakness, or burning pain in the affected area. Oftentimes, the symptoms are symmetrical and involve both hands and feet. Because the symptoms are often present in the areas covered by gloves or stockings, peripheral neuropathy is often described as having a “glove and st  Read More

  • Phlebitis and thrombophlebitis

    Phlebitis refers to inflammation of a vein and it can be caused by any insult to the blood vessel wall, impaired venous flow, or coagulation abnormality. Pain, swelling, redness, and tenderness are some common symptoms of phlebitis. Thrombophlebitis refers to the formation of a blood clot associated with phlebitis. Thrombophlebitis can be superficial (skin level) or deep (in deeper veins). Superfici  Read More

  • Pick's disease

    Frontotemporal dementia (FTD), or Pick's disease, is a syndrome featuring shrinking of the frontal and temporal anterior lobes of the brain. The symptoms of frontotemporal dementia fall into two clinical patterns that involve either: (1) changes in behavior, or (2) problems with language. Frontotemporal dementia is often inherited and runs in families. There is no treatment for frontotemporal dementia and tre  Read More

  • Pierre robin malformation sequence

    Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and hard palate can be affected.  Read More

  • Pierre-marie's disease

    Cicatricial alopecias are classified as primary or secondary. This discussion is confined to the primary cicatricial alopecias, in which the hair follicle is the target of a destructive inflammatory process. In secondary cicatricial alopecias, destruction of the hair follicle is incidental to a non-follicle-directed process or external injury, such as severe infections, burns, radiation, or tumors.Primary cicatricial alopecia refer  Read More

  • Pili torti and nerve deafness

    Bjornstad syndrome is an extremely rare inherited disorder characterized by the presence of abnormally flattened, twisted hair shafts (pili torti) and, in most cases, deafness (sensorineural hearing loss). Hearing loss typically affects both ears (bilateral). Individuals with this disorder usually have dry, fragile, lusterless, and/or coarse scalp hair as well as areas of patchy hair loss (alopecia). Both autosomal dominant and recessive inher  Read More

  • Pineal cysts, symptomatic

    Pineal cysts are benign (non-cancerous) fluid-filled sacs located in the region of the brain that contains the pineal gland. Small pineal cysts (.5 cm or smaller) are common occurrences, often found incidentally on routine neurological exams. Small pineal cysts rarely cause symptoms (asymptomatic). Larger pineal cysts are rare findings that may cause a variety of symptoms (symptomatic). Symptoms may include headaches, increased pressure on the  Read More

  • Prader-labhart-willi fancone syndrome

    Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), feeding difficulties, and poor weight gain. In childhood, features of this disorder include short stature, small genitals and an excessive appetite because affected individuals do not feel satisfied after completing a mean (satiety). Without intervention, this can lead to overeating and the gradual onset o  Read More

  • Premature aging syndrome

    Branchio-oculo-facial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth (congenital). As of 2004, only about 50 cases of BOFS had been reported in the medical literature. The symptoms of most BOFS patients include the proliferation of blood vessels (hemangiomatous) in the lower neck or upper chest, low birth weight, retarded growth and some mental retardation. BOFS is characterized by the presence of a pseudocleft of th  Read More

  • Pseudotumor cerebri

    Pseudotumor cerebri literally means "false brain tumor." It is likely due to high pressure within the skull caused by the buildup or poor absorption of cerebrospinal fluid (CSF). The disorder is most common in women between the ages of 20 and 50.  Read More

  • Pure red blood cell aplasia

    Acquired Pure Red Cell Aplasia is a rare bone marrow disorder characterized by an isolated decline of red blood cells (erythrocytes) produced by the bone marrow. Affected individuals may experience fatigue, lethargy, and/or abnormal paleness of the skin (pallor). Acquired Pure Red Cell Aplasia may occur for unknown reasons (idiopathic) or as a primary autoimmune disorder. It is also believed that Acquired Pure Red Cell Aplasia may occur second  Read More

  • Purpura, idiopathic thrombocytopenic

    Idiopathic thrombocytopenic purpura (ITP) is a not infrequent autoimmune bleeding disorder characterized by the abnormally low levels of blood cells called platelets, creating a condition known as thrombocytopenia. Platelets are specialized blood cells that help prevent and stop bleeding by inducing clotting. In many ITP cases, there are no readily apparent causes or underlying disease (idiopathic), but frequently there are associated collagen  Read More

  • Purpura, thrombotic thrombocytopenic

    Thrombotic thrombocytopenic purpura is a rare condition that leads to blood clots to build small blood vessels across the course of the body. Clots like these can result in severe medical issues if they end up blocking blood vessels and restrict the flow of blood to organs like the brain, kidneys and the heart. A protein of ADAMTS13 enzyme in the blood plays a role in blood clotting. An inadequacy in the ADAMTS13  Read More

  • Pycnodysostosis

    Pycnodysostosis is perhaps best known as the diagnosis given retrospectively to the late 19th century French artist Henri de Toulouse-Lautrec (portrayed by Jose Ferrer in the 1952 film "Moulin Rouge"). Pycnodysostosis is a genetic (inherited) disease of the bone. Its pattern of inheritance follows the classic rules of genetics (see below). Pycnodysostosis consistently causes short stature. The height of adult males with the dis  Read More

  • Pyridoxine-dependent seizures

    Pyridoxine-dependent epilepsy (PDE) is a rare cause of stubborn, difficult to control, (intractable) seizures appearing in newborns, infants and occasionally older children, of which more than 200 cases have now been reported in the medical literature. PDE presents in a variety of forms with variable signs and symptoms (phenotypically heterogeneous). The one clinical feature characteristic of all patients with PDE is intractable seizures that  Read More

  • Pyruvate carboxylase deficiency

    Pyruvate carboxylase deficiency is a rare genetic disorder characterized by a failure of the body to produce the necessary fuels for energy and neurotransmitters important for brain function. In its most severe form PCD leads to progressive damage to the tissue and organs, especially in the nervous system. Pyruvate carboxylase deficiency is inherited as an autosomal recessive genetic condition.  Read More

  • Pyruvate dehydrogenase deficiency

    Pyruvate dehydrogenase complex deficiency (PDCD) is a rare disorder of carbohydrate metabolism caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex (PDC). The age of onset and severity of disease depends on the activity level of the PDC enzymes. Individuals with PDCD beginning prenatally or in infancy usually die in early childhood. Those who develop PDCD later in childhood may have mental retardation and ot  Read More

  • Quantal squander

    Acquired neuromyotonia is an inflammatory disorder characterized by abnormal nerve impulses from the peripheral nerves that result in continuous muscle fiber activity. Affected individuals often experience progressive muscle stiffness and cramping especially in the hands and feet, increased sweating, and delayed muscle relaxation. Symptoms may persist even during sleep or under general anesthesia.  Read More

  • Ramsay hunt syndrome

    Ramsay Hunt syndrome (also termed Hunt's Syndrome and herpes zoster oticus) is a herpes zoster virus infection of the geniculate ganglion of the facial nerve. It is caused by reactivation of herpes zoster virus that has previously caused chickenpox in the patient. Ramsay Hunt syndrome results in paralysis of the facial muscles on the same side of the face as the infection. So, the virus infects the facial nerve that normally controls the muscl  Read More

  • Ramsay-hunt syndrome

    Ramsay Hunt syndrome (RHS) is a rare neurological disorder characterized by paralysis of the facial nerve (facial palsy) and a rash affecting the ear or mouth. Ear abnormalities such as ringing in the ears (tinnitus) and hearing loss may also be present. Ramsay Hunt syndrome is caused by the varicella zoster virus (VZV), the same virus that causes chickenpox in children and shingles (herpes zoster) in adults. In cases of Ramsay Hunt syndrome,  Read More

  • Rasmussen's syndrome

    Rasmussen encephalitis, sometimes referred to as Rasmussen syndrome, is a rare disorder of the central nervous system characterized by chronic inflammation (encephalitis) of one hemisphere of the brain. As a result, the patient experiences frequent episodes of uncontrolled electrical disturbances in the brain that cause epileptic seizures (epilepsy). Further symptoms may include progressive weakness of one side of the body (hemiparesis), langu  Read More

  • Rebound headaches

    Rebound headaches, also known as medication overuse headaches, are caused by the frequent or excessive use of medications to treat headaches. These medications can include over-the-counter pain relievers, such as ibuprofen and acetaminophen, as well as prescription medications, such as triptans and opioids. When these medications are used too often, the body can become dependent on them, leading to a cycle of headaches that become more frequen  Read More

  • Reflex neurovascular dystrophy

    Reflex sympathetic dystrophy syndrome (RSDS), also known as complex regional pain syndrome, is a rare disorder of the sympathetic nervous system that is characterized by chronic, severe pain. The sympathetic nervous system is that part of the autonomic nervous system that regulates involuntary functions of the body such as increasing heart rate, constricting blood vessels, and increasing blood pressure. Excessive or abnormal responses of porti  Read More

  • Retinal migraine

    Retinal migraine is a rare type of migraine that causes temporary vision loss or visual disturbances in one eye. Symptoms may include blind spots, flashing lights, or wavy lines. These symptoms usually last for less than an hour and may be accompanied by a headache. Retinal migraine is a diagnosis of exclusion, meaning that other causes of vision loss must be ruled out before a diagnosis can be made. Treatment typically involves medications to  Read More

  • Retinitis pigmentosa

    Retinitis pigmentosa is the most common of a group of hereditary progressive retinal degenerations or dystrophies. There is considerable variation and overlap among the various forms of retinitis pigmentosa. Common to all of them is progressive degeneration of the retina, specifically of the light receptors, known as the rods and cones. The rods of the retina are involved earlier in the course of the disease, and cone deterioration occurs late  Read More

  • Reye's syndrome

    Reye's syndrome is a rare and severe illness affecting children. Reye's syndrome is associated with viral infection and aspirin use. Patients with Reye's syndrome present with vomiting and mental-status changes. Diagnosing Reye's syndrome primarily depends on the clinical history of symptoms. The most common abnormal laboratory tests with Reye's syndrome include elevated liver enzymes, elevated ammo  Read More

  • Rheumatoid arthritis (ra)

    Rheumatoid arthritis is an autoimmune disease that can cause chronic inflammation of the joints and other areas of the body. Rheumatoid arthritis symptoms and signs include joint pain in the feet, hands, and knees, swollen joints, fever, tender joints, loss of joint function, stiff joints, fatigue, joint redness, rheumatoid nodules,  Read More

  • Russian autumnal encephalitis

    Japanese Encephalitis is a severe inflammation of the brain caused by the Japanese B Encephalitis Virus that is transmitted by the bite of infected mosquitoes in certain areas of the world, particularly Asia. This disorder most commonly affects children and tends to be more actively spread during the summer. Symptoms include high fever, headaches, weakness, nausea, vomiting, paralysis, personality changes, and coma, possibly leading to neurolo  Read More

  • Salivosudoriparous syndrome

    Frey syndrome is a rare disorder that most often occurs as a result of surgery in the area near the parotid glands. The parotid glands are the largest salivary glands in the body located just below the ears on either side of the face. The main symptoms of Frey syndrome are undesirable sweating and flushing occurring on the cheek, temple (temporal region), or behind the ears (retroauricular region) after eating certain foods, especially those t  Read More

  • Schilder disease

    Adrenoleukodystrophy is an X-linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome. This condition affects the white matter of the nervous system and the adrenal cortex. Some affected individuals have adrenal insufficiency, which means that reduced amounts of certain hormones such as adrenaline and cortisol are produced, leading to abnormalities in blood pressure, heart rate, sexual development and re  Read More

  • Sinus headaches

    1. Over-the-counter medications: Nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen (Advil, Motrin) and naproxen (Aleve) can help reduce inflammation and pain. 2. Decongestants: These medications can help reduce congestion and open up the sinuses. 3. Nasal sprays: Nasal sprays such as oxymetazoline (Afrin) can help reduce congestion. 4. Antihistamines: Antihistamines such as diphenhydramine (  Read More

  • Spielmeyer-vogt disease

    Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatt  Read More

  • Spielmeyer-vogt-batten syndrome

    Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatt  Read More

  • Spinal arachnoiditis

    Arachnoiditis is a disease characterized by an acute inflammatory stage that occurs in the dura (exterior) and the arachnoid (interior), two of the three membranes that cover and protect the brain, the spinal cord and the nerve roots. The arachnoid contains the cerebrospinal fluid which circulates from the brain to the sacral area, about every two hours; it filters any invasion and usually responds first by inflammation and follows with a chro  Read More

  • Spinal muscular atrophy type i

    The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weakness of the truncal, and extremity muscles initially, followed by chewing, swallowing and breathing difficulties. Motor neurons are nerve cells that transmit nerve impulses from the spinal cord or bra  Read More

  • Splenomegaly with rheumatoid arthritis

    Felty syndrome is usually described as associated with or a complication of rheumatoid arthritis. This disorder is generally defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (spenomelgaly) and a low white blood cell count (neutropenia). The presence of RA gives rise to painful, stiff and swollen joints. A low white blood cell count, especially when accompanied by an abnormally large spleen, leads to a  Read More

  • Status migrainosus

    Status migrainosus is a severe form of migraine headache that lasts for more than 72 hours. It is characterized by intense, debilitating pain that is often accompanied by nausea, vomiting, and sensitivity to light and sound. Treatment for status migrainosus typically involves the use of intravenous medications, such as anti-nausea medications, anti-inflammatory medications, and pain relievers.  Read More

  • Subacute cerebellar degeneration

    Subacute cerebellar degeneration (SCD) is characterized by the deterioration of the area of the brain concerned with muscle coordination and balance (the cerebellum). Less frequently, the area involved may include the area connecting the spinal cord to the brain (the medulla oblongata, the cerebral cortex, and the brain stem). There are two types of subacute cerebellar degeneration: paraneoplastic cerebellar degeneration, which sometimes prece  Read More

  • Subacute necrotizing encephalopathy

    Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh syndrome usually begin between the ages of three months and two years. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizur  Read More

  • Subacute sclerosing panencephalitis

    Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to the measles virus. SSPE usually develops 2 to 10 years after the original viral attack. Initial symptoms may include memory loss, irritability, seizures, involuntary muscle movements, and/or behavioral  Read More

  • Subacute spongiform encephalopathy

    Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected individuals may develop confusion, depression, behavioral changes, impaired vision, and/or impaired coordination. As the disease progresses, there may be rapidly progressive deterioration of cognitive pr  Read More

  • Subcortical dementia

    Binswanger disease is a progressive neurological disorder caused by arteriosclerosis and thromboembolism affecting the blood vessels that supply the white-matter and deep structures of the brain (basal ganglia and thalamus). Most patients experience progressive loss of memory and intellectual abilities (dementia), urinary urgency or incontinence, and an abnormally slow, shuffling, unsteady pattern of walking, usually over a 5-10 year period. D  Read More

  • Subcortical ischemic vascular disease

    Binswanger disease is a progressive neurological disorder caused by arteriosclerosis and thromboembolism affecting the blood vessels that supply the white-matter and deep structures of the brain (basal ganglia and thalamus). Most patients experience progressive loss of memory and intellectual abilities (dementia), urinary urgency or incontinence, and an abnormally slow, shuffling, unsteady pattern of walking, usually over a 5-10 year period. D  Read More

  • Succinic semialdehyde dehydrogenase defi...

    Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare inborn error of metabolism that is inherited as an autosomal recessive trait. In individuals with the disorder, deficient activity of the SSADH enzyme disrupts the metabolism of gamma-aminobutyric acid (GABA). GABA is a natural chemical known as a "neurotransmitter" that serves to inhibit the electrical activities of nerve cells (inhibitory neurotransmitter). SSADH deficiency lea  Read More

  • Sudeck's atrophy

    Reflex sympathetic dystrophy syndrome (RSDS), also known as complex regional pain syndrome, is a rare disorder of the sympathetic nervous system that is characterized by chronic, severe pain. The sympathetic nervous system is that part of the autonomic nervous system that regulates involuntary functions of the body such as increasing heart rate, constricting blood vessels, and increasing blood pressure. Excessive or abnormal responses of porti  Read More

  • Sulfatide lipidosis

    Metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain (leukoencephalopathy). It is characterized by the accumulation of a fatty substance known as sulfatide (a sphingolipid) in the brain and other areas of the body (i.e., liver, gall bladder, kidneys, and/or spleen). The fatty protective covering on the nerve fibers (myelin) is lost from areas o  Read More

  • Susac syndrome

    Susac's syndrome is a rare disorder characterized by three main problems: impaired brain function (encephalopathy), partial or complete blockage (occlusion) of the arteries that supply blood to the retina (branch retinal artery occlusion, or BRAO), and inner ear disease (hearing loss, most notably). Three main forms of Susac's syndrome have become apparent. In one form, encephalopathy is the main problem. In the second form, BRAO a  Read More

  • Systemic lupus erythematosus

    Systemic lupus erythematosus (SLE) is an autoimmune disease. SLE is characterized by the production of unusual antibodies in the blood. SLE is eight times more common in women than men. The cause(s) of SLE is (are) unknown, however, heredity, viruses, ultraviolet light, and drugs all may play some role. Up to 10% of people with lupus isolated to the skin will develop the systemic form of lupus (SLE)  Read More

  • Systemic mastocytosis

    Systemic mastocytosis (mas-to-sy-TOE-sis) is a disorder that results in an excessive number of mast cells in your body. Mast cells normally help protect you from disease and aid in wound healing by releasing substances such as histamine and leukotrienes. But if you have systemic mastocytosis, excess mast cells generally build up in your skin, bone marrow, gastrointestinal tract and bones. When triggered, these mast cells release substa  Read More

  • Takatsuki syndrome

    POEMS syndrome is an extremely rare multisystem disorder. POEMS is an acronym that stands for (P)olyneuropathy, disease affecting many nerves; (O)rganomegaly, abnormal enlargement of an organ; (E)ndocrinopathy, disease affecting certain hormone-producing glands that help to regulate sexual function, and certain metabolic functions; (M)onoclonal gammopathy or M proteins; and (S)kin abnormalities. Common symptoms include progressive weakness of  Read More

  • Tardive dyskinesia

    Tardive dyskinesia (TD) is an involuntary neurological movement disorder caused by the use of dopamine receptor blocking drugs that are prescribed to treat certain psychiatric or gastrointestinal conditions. Long-term use of these drugs may produce biochemical abnormalities in the area of the brain known as the striatum. The reasons that some people who take these drugs may get tardive dyskinesia, and some people do not, is unknown. Tardive dy  Read More

  • Tas midline defect

    Pentalogy of Cantrell is a rare disorder that is present at birth (congenital). Pentalogy of Cantrell is characterized by a combination of birth defects. These birth defects can potentially involve the breastbone (sternum), the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm), the thin membrane that lines the heart (pericardium), the abdominal wall, and the heart. Pentalogy of Cantrell occurs with varyi  Read More

  • Tay syndrome

    Trichothiodystrophy is a hereditary disorder characterized by brittle hair, which may be accompanied by a variety of other manifestations. It is sometimes called PIBIDS, a term that refers to the association of Photosensitivity Ichthyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature. Without photosensitivity the condition has been termed IBIDS, and without ichthyosis, BIDS. Many patients have recurrent infecti  Read More

  • Tension headaches

    Tension headaches are the most common type of headache. They are caused by muscle tension in the neck, scalp, and jaw. Symptoms of tension headaches include a dull, aching pain in the head, neck, and shoulders, as well as tightness in the muscles of the head and neck. Tension headaches can last anywhere from 30 minutes to several days.  Read More

  • Thalamic hyperesthetic anesthesia

    Central pain syndrome is a neurological disorder caused by damage to the central nervous system (CNS). Common symptoms include pain and loss of sensation, usually in the face, arms and/or legs. Pain is often constant and can be mild, moderate, or severe in intensity. Affected individuals may become hypersensitive to painful stimuli. The specific type of pain experience can vary from one individual to another based, in part, upon the underlying  Read More

  • Thoracic outlet syndrome (tos)

    Thoracic outlet syndrome is a condition whereby symptoms are produced from compression of nerves or blood vessels, or both, because of an inadequate passageway through an area (thoracic outlet) between the base of the neck and the armpit. Thoracic outlet syndrome symptoms include neck pain, shoulder pain, arm pain, numbness and tingling of the fingers, impaired circulation to th  Read More

  • Thunderclap headaches

    Thunderclap headaches are sudden, severe headaches that reach their peak intensity within 60 seconds. They are often described as the worst headache of a person's life. Thunderclap headaches can be caused by a variety of conditions, including aneurysms, arterial dissections, and reversible cerebral vasoconstriction syndrome. Treatment for thunderclap headaches depends on the underlying cause.  Read More

  • Tourette syndrome

    Tourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The disorder is named for Dr. Georges Gilles de la Tourette, the pioneering French neurologist who in 1885 first described the condition in an 86-year-old French noblewoman. The early symptoms of Tourette syndrome are almost always noticed first in childhood, with the average onset between the  Read More

  • Trapezoidocephaly-multiple synostosis syndrome

    Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial (craniofacial) area and additional skeletal abnormalities. For example, the disorder is typically associated with premature closure of the fibrous joints (cranial sutures) between particular bones of the skull (craniosynostosis). Many affected infants and children also may have a prominent forehead, underdevelop  Read More

  • Trichorhinophalangeal syndrome type i

    Trichorhinophalangeal syndrome type I (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by thin, sparse scalp hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a rounded (bulbous) "pear-shaped" nose, an abnormally sma  Read More

  • Trifacial neuralgia

    Trigeminal neuralgia, also known as tic douloureux, is a disorder of the fifth cranial nerve (trigeminal nerve) characterized by attacks of intense, stabbing pain affecting the mouth, cheek, nose, and/or other areas on one side of the face. The exact cause of trigeminal neuralgia is not fully understood.  Read More

  • Trigeminal neuralgia (tic douloureux)

    Trigeminal neuralgia, also known as tic douloureux, is a disorder of the fifth cranial nerve (trigeminal nerve) characterized by attacks of intense, stabbing pain affecting the mouth, cheek, nose, and/or other areas on one side of the face. The exact cause of trigeminal neuralgia is not fully understood.  Read More

  • Trigonocephaly syndrome

    C syndrome, also known as Opitz trigonocephaly syndrome, is a rare disorder transmitted as a result of "gonadal mosaicism". Mosaicism refers to a condition in which a person has cells that differ from each other in genetic makeup. The difference is usually a variation in the number of chromosomes. Normally, all body cells would have 46 chromosomes, but in mosaicism, some cells may have 45 or 47. Mosaicism occurs as a result of an error in cell  Read More

  • Tuberculous meningitis

    Tuberculous Meningitis (TBM) is a form of meningitis characterized by inflammation of the membranes (meninges) around the brain or spinal cord and caused by a specific bacterium known as Mycobacterium tuberculosis. In TBM, the disorder develops gradually. Treatment with antibiotics and other drugs is usually effective against the infection.  Read More

  • Turcot syndrome

    Turcot syndrome is a rare inherited disorder characterized by the association of benign growths (adenomatous polyps) in the mucous lining of the gastrointestinal tract with tumors of the central nervous system. Symptoms associated with polyp formation may include diarrhea, bleeding from the end portion of the large intestine (rectum), fatigue, abdominal pain, and weight loss. Affected individuals may also experience neurological symptoms, depe  Read More

  • Upper brachial plexus palsy, erb-duchenn...

    Brachial plexus palsy, also known as Erb's palsy, is a paralysis or weakness of the arm caused by an injury to one or more nerves that control and supply the muscles of the shoulder and upper extremities (upper brachial plexus). It is more commonly seen in newborns (neonates) and is often the result of a difficult delivery. When it occurs in adults, the cause typically is an injury that has caused stretching, tearing or other trauma to the bra  Read More

  • Uroporphyrinogen decarboxylase deficienc...

    Porphyria cutanea tarda (PCT) is a type of porphyria in which affected individuals are sensitive to sunlight. Exposed skin shows abnormalities that range from slight fragility of the skin to persistent scarring and disfiguration. Due to fragility of the skin, minor trauma may induce blister formation. Areas of increased and decreased pigment content may be noted on the skin. Blistering of light exposed skin and increased hair growth are also c  Read More

  • Uveomeningitis syndrome

    Vogt-Koyanagi-Harada disease is a rare disorder of unknown origin that affects many body systems, including as the eyes, ears, skin, and the covering of the brain and spinal cord (the meninges). The most noticeable symptom is a rapid loss of vision. There may also be neurological signs such as severe headache, vertigo, nausea, and drowsiness. Loss of hearing, and loss of hair (alopecia) and skin color may occur along, with whitening (loss of p  Read More

  • Vascular dementia, binswanger's type

    Binswanger disease is a progressive neurological disorder caused by arteriosclerosis and thromboembolism affecting the blood vessels that supply the white-matter and deep structures of the brain (basal ganglia and thalamus). Most patients experience progressive loss of memory and intellectual abilities (dementia), urinary urgency or incontinence, and an abnormally slow, shuffling, unsteady pattern of walking, usually over a 5-10 year period. D  Read More

  • Vascular malformations of the brain

    As the name suggests, vascular malformations of the brain is an umbrella term for at least six conditions in which blood vessels of the brain are affected. Such malformations are classified into several types in which the symptoms, severity, and causes vary. These types of VMB are: (1) arteriovenous malformations (AVM), abnormal arteries and veins; (2) cavernous malformations (CM), enlarged blood-filled spaces; (3) venous angiomas (VA), abnorm  Read More

  • Vestibular migraine

    Vestibular migraine is a type of migraine disorder that is characterized by recurrent episodes of vertigo, dizziness, and other vestibular symptoms. It is estimated to affect up to 1 in 10 people with migraine. Symptoms of vestibular migraine can include vertigo, dizziness, imbalance, nausea, and visual disturbances. Other symptoms may include hearing loss, tinnitus, and a feeling of fullness in the ear. Treatment for vestibular migraine typic  Read More

  • Von hippel lindau disease

    Von Hippel-Lindau syndrome (VHL) is an autosomal dominant genetic disorder characterized by the abnormal growth of blood vessels in certain parts of the body (angiomatosis). Very small blood vessels (capillaries) "knot" together to form benign growths known as angiomas or hemangioblastomas. These may develop in the retinas of the eyes (retinal hemangioblastomas) or in the brain or spinal cord, or in the inner ear (endolymphatic sac tumors). Va  Read More

  • Von recklinghausen's disease

    Neurofibromatosis type 1 (NF1), also called von Recklinghausen's disease, is a rare genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormally decreased or increased coloration (hypo- or hyperpigmentation) of the skin. Areas of abnormal pigmentation typically include pale tan or light brown discolorations (cafe-au-lait spots) on the skin of the trunk and  Read More

  • Von recklinghausen's neurofibromatosis

    Neurofibromatosis type 1 (NF1), also called von Recklinghausen's disease, is a rare genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormally decreased or increased coloration (hypo- or hyperpigmentation) of the skin. Areas of abnormal pigmentation typically include pale tan or light brown discolorations (cafe-au-lait spots) on the skin of the trunk and  Read More

  • Walker warburg syndrome

    Walker-Warburg syndrome (WWS) is a rare multisystem disorder characterized by muscle, brain and eye abnormalities, often leading to death in the first weeks of life. However, the specific symptoms and severity of WWS can vary greatly from case to case. The most consistent features are (1) a smooth appearance of the surface of the brain due to lack of normal folding pattern (lissencephaly or agyria), often with malformations of other brain stru  Read More

  • Wallenbergs syndrome

    Some people with Wallenberg's syndrome have difficulty balancing while walking because they feel like the world is tilting. Wallenberg's syndrome, also called lateral medullary syndrome or Wallenberg syndrome, is a neurological condition that can develop when damage occurs in a part of the brainstem called the lateral medulla. When one of the arteries of the brainstem is blocked, oxygenated blood can't get to the brain, and a  Read More

  • Warburg syndrome

    Walker-Warburg syndrome (WWS) is a rare multisystem disorder characterized by muscle, brain and eye abnormalities, often leading to death in the first weeks of life. However, the specific symptoms and severity of WWS can vary greatly from case to case. The most consistent features are (1) a smooth appearance of the surface of the brain due to lack of normal folding pattern (lissencephaly or agyria), often with malformations of other brain stru  Read More

  • Weaver-smith syndrome

    Weaver Syndrome is characterized by rapid growth. Usually starting before birth (prenatal onset), physical growth and bone development (maturation) can occur more quickly than average. Other symptoms can include increased muscle tone (hypertonia) with exaggerated reflexes (spasticity), slow development of voluntary movements (psychomotor retardation), specific physical characteristics, and/or foot deformities. Babies with this syndrome have a  Read More

  • Werdnig-hoffman paralysis

    The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weakness of the truncal, and extremity muscles initially, followed by chewing, swallowing and breathing difficulties. Motor neurons are nerve cells that transmit nerve impulses from the spinal cord or bra  Read More

  • Werlhof disease

    Idiopathic thrombocytopenic purpura (ITP) is a not infrequent autoimmune bleeding disorder characterized by the abnormally low levels of blood cells called platelets, creating a condition known as thrombocytopenia. Platelets are specialized blood cells that help prevent and stop bleeding by inducing clotting. In many ITP cases, there are no readily apparent causes or underlying disease (idiopathic), but frequently there are associated collagen  Read More

  • Wernicke-korsakoff syndrome

    Wernicke syndrome and Korsakoff syndrome are related disorders that often occur due to a deficiency of thiamine (vitamin B1). Wernicke's syndrome, also known as Wernicke encephalopathy, is a neurological disease characterized by the clinical triad of confusion, the inability to coordinate voluntary movement (ataxia), and eye (ocular) abnormalities. Korsakoff's syndrome is a mental disorder characterized by disproportionate memory loss in relat  Read More

  • Whiplash

    Whiplash is a relatively common injury that is often ignored or mistreated due to lack of understanding of the condition. Whiplash is usually the result of a rear impact while in a stationary position. Early range of motion and exercises lead to a more rapid recovery than prolonged immobilization or use of a cervical collar. Failure to properly educate and treat patients with whiplash can lead to chronic psyc  Read More

  • Willi-prader syndrome

    Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), feeding difficulties, and poor weight gain. In childhood, features of this disorder include short stature, small genitals and an excessive appetite because affected individuals do not feel satisfied after completing a mean (satiety). Without intervention, this can lead to overeating and the gradual onset o  Read More

  • Wilson's disease

    Wilson's disease is a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. Most people with Wilson's disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well. Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and excess is excreted through  Read More

  • X-linked congenital recessive muscle hyp...

    X-linked myotubular myopathy (XLMTM) is a rare genetic neuromuscular disorder that is characterized by muscle weakness that can range from mild to profound. Symptoms are often present at birth, but may first develop during infancy or early childhood. In rare cases, symptoms may not develop until later, even adulthood. Common symptoms include mild to profound muscle weakness, diminished muscle tone (hypotonia or "floppiness"), feeding difficult  Read More

  • Yunis varon syndrome

    Yunis-Varon syndrome is an extremely rare genetic multisystem disorder with defects affecting the skeletal system, ectodermal tissue (hair and teeth); and cardiorespiratory (i.e., heart and lungs) systems. It is characterized by large fontanelles, clavicular hypoplasia, characteristic facial features and/or abnormalities of fingers and toes. Characteristic features may include microcephaly, ear abnormalities, anteverted nares, midfacial hypopl  Read More

  • Zellweger syndrome

    Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form. Zellweger spe  Read More