The following Conditions are related to O

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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

  • Alzheimer's disease

    At first, increasing forgetfulness or mild confusion may be the only symptoms of Alzheimer's disease that you notice. But over time, the disease robs you of more of your memory, especially recent memories. The rate at which symptoms worsen varies from person to person. If you have Alzheimer's, you may be the first to notice that you're having unusual difficulty remembering things and organizing your thoughts. Or you may not recognize t  Read More

  • Aneurysm

    Abdominal aortic aneurysms often grow slowly and usually without symptoms, making them difficult to detect. Some aneurysms will never rupture. Many start small and stay small, although many expand over time. Others expand quickly. Predicting how fast an abdominal aortic aneurysm may enlarge is difficult. As an abdominal aortic aneurysm enlarges, some people may notice: A pulsating feeling near the navel Deep, c  Read More

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

    Asperger's syndrome (asperger syndrome, asperger disorder) belongs to a group of neurodevelopment conditions known as an autism spectrum disorder (ASD). It has no official diagnosis. Generally, the patients with this disorder are just as smart as other folks, but they have more trouble with social skills with an obsessive focus on one topic or perform the same behaviors again and again. Asperger's syndrome is no longer a  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

  • 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

    Signs and symptoms of Bell's palsy come on suddenly and may include: Rapid onset of mild weakness to total paralysis on one side of your face — occurring within hours to days Facial droop and difficulty making facial expressions, such as closing your eye or smiling Drooling Pain around the jaw or in or behind your ear on the affected side Increased sensitivity to sound on the affecte  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

  • Botulism

    Foodborne botulism Signs and symptoms of foodborne botulism typically begin between 12 and 36 hours after the toxin gets into your body. But, depending on how much toxin was consumed, the start of symptoms may range from a few hours to a few days. Signs and symptoms of foodborne botulism include: Difficulty swallowing or speaking Dry mouth Facial weakness on both sides of the face Blurred  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

  • Brain aneurysm(cerebral aneurysm)

    A brain aneurysm(cerebral aneurysm) is a dilation along the arterial circulation within the brain. About 85% of the dilations occur in the anterior circulation, which supplies blood to the anterior parts of the brain. The causes include: hemodynamic stress on the internal elastic lamina, vibrations from the turbulence of blood flow, and T-lymphocytes and macrophages mediated inflammation. Patients with advanced age, hypertensi  Read More

  • Brain tumor

    The signs and symptoms of a brain tumor vary greatly and depend on the brain tumor's size, location and rate of growth. General signs and symptoms caused by brain tumors may include: New onset or change in pattern of headaches Headaches that gradually become more frequent and more severe Unexplained nausea or vomiting Vision problems, such as blurred vision, double vision or loss of peripher  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, general, is the mass growth of abnormal cells in the brain. There are different types of brain tumors, some are noncancerous (benign), and some brain tumors are cancerous (malignant). This can begin in the brain or some type of cancer begins in other parts of the body and spreads to the brain. The treatment of brain tumors depends on the location, size and type of tumor. 1. Treatment of brain tumors  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

    In its early stages, carotid artery disease often doesn't produce any signs or symptoms. The condition may go unnoticed until it's serious enough to deprive your brain of blood, causing a stroke or TIA. Signs and symptoms of a stroke or TIA include: Sudden numbness or weakness in the face or limbs, often on only one side of the body Sudden trouble speaking and understanding  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

  • 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

  • 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

  • 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 is marked by rapid mental deterioration, usually within a few months. Initial signs and symptoms typically include: Personality changes Anxiety Depression Memory loss Impaired thinking Blurred vision or blindness Insomnia Difficulty speaking Difficulty swallowing Sudden, jerky movements As the disea  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

  • 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-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

    A Dural endothelioma is a tumor that arises from the meninges — the membranes that surround the brain and spinal cord. Although not technically a brain tumor, it is included in this category because it may compress or squeeze the adjacent brain, nerves and vessels. Dural endothelioma is the most common type of tumor that forms in the head. Most Dural endothelioma grow very slowly, often over many years, with  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

  • 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  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

    An uncommon illness called encephalocele that develops before birth (congenital). Typically, the third and fourth weeks of pregnancy are when the brain and spinal cord develop. The neural tube is how they are created. The majority of encephaloceles develop when the neural tube is not completely closed. When the baby's brain, neurological system, and skull are just beginning to form, this should take place. Brain tissue and spi  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

    Because epilepsy is caused by abnormal activity in the brain, seizures can affect any process your brain coordinates. Seizure signs and symptoms may include: Temporary confusion A staring spell Uncontrollable jerking movements of the arms and legs Loss of consciousness or awareness Psychic symptoms such as fear, anxiety or deja vu Symptoms vary depending on the type of seiz  Read More

  • Epilepsy and multiple subpial transection (mst)

    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 and multiple subpial transection (MST) affects both males and females of all races, ethnic backgrounds and ages Because epilepsy is caused by abnormal activity in the brain, seiz  Read More

  • Epilepsy and temporal lobe resection

    temporal lobe resection is a treatment not a disorder  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

    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 ecause epilepsy is caused by abnormal activity in the brain, seizures can affect any process your brain coordinates. Seizure signs and symp  Read More

  • Epilepsy: vagus nerve stimulation (vns)

    Employing a device to deliver electrical impulses to the vagus nerve is known as vagus nerve stimulation (VNS). The application of an implantable vagus stimulator to treat epilepsy is officially approved by the FDA. Each side of your body has one vagus nerve, which travels from your brainstem through your neck to your chest and belly. A neurological condition called epilepsy affects the brain and increases the ris  Read More

  • Erb-duchenne palsy

    Muscle weakness in the arm or shoulder known as erb-duchenne palsy can be brought on by an injury received either during birth or later in life. It most frequently affects newborns whose shoulders were damaged after birth. While some cases cure on their own. Symptoms 1. Elbow, arm, and shoulder are all impacted by Erb's palsy. Your hand muscles are generally unaffected, although your hands could feel  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

    Fahr's syndrome, familial idiopathic basal ganglia calcification, and primary familial brain calcification are further names for Fahr's disease. It is a very uncommon neurological condition marked by bilateral calcifications of certain brain regions. Fahr's disease typically affects people in their 40s and 50s, though it can also strike children or teenagers. The prevalence of the disease is lower than 1 in 1,000,000. There is a paucity of mol  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

  • 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

    Identifying precisely which diseases fall into the category of frontotemporal dementia presents a particular challenge to scientists. The signs and symptoms may vary greatly from one individual to the next. Researchers have identified several clusters of symptoms that tend to occur together and are dominant in subgroups of people with the disorder. More than one symptom cluster may be apparent in the same person. The signs and  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

    At birth, infants with galb deficiency appear healthy, but by 8 to 15 months, they stop growing and start losing their learned skills (developmental regression). Affected people experience seizures and blindness as the illness worsens, and gradually they lose consciousness of their surroundings and become slow to react. Most people who have this type of illness do not live into early childhood. Children with the c  Read More

  • Gaucher disease

    There are different types of Gaucher disease, and signs and symptoms of disease vary widely, even within the same type. Type 1 is by far the most common. Siblings, even identical twins, with the disease can have different levels of severity. Some people who have Gaucher disease have only mild or no symptoms. Most people who have Gaucher disease have varying degrees of the following problems: Abdominal com  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 syndrome often begins with tingling and weakness starting in your feet and legs and spreading to your upper body and arms. In about half of people with the disorder, symptoms begin in the arms or face. As Guillain-Barre syndrome progresses, muscle weakness can evolve into paralysis. Signs and symptoms of Guillain-Barre syndrome may include: Prickling, pins and needles sensations in your fingers, toes, ankl  Read More

  • Haddad syndrome

    Normal breathing is impaired by Haddad syndrome, a condition. People with this illness frequently hyperventilate while sleeping, which causes a deficiency in oxygen and an accumulation of carbon dioxide in the blood. The autonomic nervous system, which regulates unconscious bodily functions, would typically respond to such an imbalance by causing the person to wake up or breathe deeply. People with Haddad syndrome  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

  • 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)

    Hippel disease (HLS) is a hereditary disorder characterized by tumors developing in many organs. It results from a VHL gene mutation (change). Hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and retina, are tumors associated with HLS. Retinal tumors, also known as retinal angiomas, can cause blindness if they are not promptly treated. Additionally, clear cell renal cell carcinoma (ccRCC), a particul  Read More

  • Hirschsprung's disease

    Signs and symptoms of Hirschsprung's disease vary with the severity of the condition. Usually signs and symptoms appear shortly after birth, but sometimes they're not apparent until later in life. Typically, the most obvious sign is a newborn's failure to have a bowel movement within 48 hours after birth. Other signs and symptoms in newborns may include: Swollen belly Vomiting, including vomiting a gree  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

  • 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

  • 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

    The signs and symptoms of hydrocephalus vary somewhat by age of onset. Infants Common signs and symptoms of hydrocephalus in infants include: Changes in the head An unusually large head A rapid increase in the size of the head A bulging or tense soft spot (fontanel) on the top of the head Physical signs and symptoms Vomiting Sleepiness  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

  • 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

    The neurological condition known as infantile epileptic encephalopathy is characterized by seizures. The condition typically manifests in infants as epileptic seizures within the first three months of life (most frequently within the first 10 days). Symptoms of infantile epileptic encephalopathy 1. The electroencephalogram (EEG), which gauges the electrical activity of the brain, exhibits EIEE symptom  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

  • 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

  • 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

  • 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

  • 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

  • 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 your problem is temporary, or you’re only slightly hypokalemic, you might not feel any symptoms. Once your potassium levels fall below a certain level, you might experience: Weakness Fatigue Muscle cramps or twitching Constipation Arrhythmia (abnormal heart rhythms) Hypokalemia can affect your kidneys. You may have to go to the bathroom more often. You may also fee  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

    No two cases of lupus are exactly alike. Signs and symptoms may come on suddenly or develop slowly, may be mild or severe, and may be temporary or permanent. Most people with lupus have mild disease characterized by episodes — called flares — when signs and symptoms get worse for a while, then improve or even disappear completely for a time. The signs and symptoms of lupus that you experience will depend on which body syste  Read More

  • Lymphedema hereditary

    Cure/medications for lymphedema hereditary: 1. Hereditary lymphedema treatment focuses on symptom management, especially lowering edema and avoiding infection. Referral to a lymphedema therapist is advised for lower leg edema. 2. Fitting compression hosiery, bandaging, massage, supportive footwear, and proper skin care are all possible treatment options. 3. Complete decongestive therapy (CDT) is a type of car  Read More

  • Meningitis

    Early meningitis symptoms may mimic the flu (influenza). Symptoms may develop over several hours or over a few days. Possible signs and symptoms in anyone older than the age of 2 include: Sudden high fever Stiff neck Severe headache that seems different than normal Headache with nausea or vomiting Confusion or difficulty concentrating Seizures Sleepiness or diff  Read More

  • Mononeuritis multiplex

    While mono-neuritis multiplex can affect anyone, those with particular disorders are more likely to get it. While these illnesses can lead to mono-neuritis multiplex, they can also be minor and not always recognized. Around half of all instances of mono-neuritis multiplex were formerly undiagnosed, although recent decades have seen improvements in this area. 1. Diabetes mellitus, illnesses of the connective tissue  Read More

  • Mononeuritis peripheral

    A set of diseases known as neuropathies afflict the nerves not connected to the brain and spinal cord (the peripheral nerves). The term "mononeuropathy" refers to a condition in which only one nerve or one set of nerves is harmed. This condition has a detrimental impact on the area of the body that is connected to that nerve or group, impairing mobility, sensation, or function there. Any region of the body might be impacted by neuropathy.  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

  • 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

  • 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

    Mucopolysaccharidosis Disorders are a group of rare genetic conditions caused due to deficiency of one of the lysosomal enzymes. MPS Type-III is one of seven Mucopolysaccharidosis Disorders. It is a result of an inborn metabolism error transmitted as an autosomal recessive genetic condition. An abnormal quantity of a certain chemically complex molecule excreted in the urine is one of the most prevalent symptoms of MPS disorder III  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

    Mucopolysaccharidosis type III, also known as Sanfilippo syndrome, is an inborn error in the metabolism of mucopolysaccharides. It reflects in deficiency or little activity of enzymes required for the catabolism of mucopolysaccharides leading to its accumulation. The disease presents with neurological manifestations such as autism, intellectual disability, behavioral problems, sleep disturbances, developmental regression, and  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

  • 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 signs and symptoms may differ greatly from person to person and over the course of the disease depending on the location of affected nerve fibers. They may include: Numbness or weakness in one or more limbs that typically occurs on one side of your body at a time, or the legs and trunk Partial or complete loss of vision, usually in one eye at a time, often with pain during eye movement Prol  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

  • 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

  • Nonketotic hyperglycinemia

    A high level of glycine in the body leads to a condition called nonketotic hyperglycinemia that primarily affects the nervous system. The disease onset occurs a few months after birth and has two forms: attenuated and severe. Early signs and symptoms are lethargy (which worsens over time and can lead to coma), life-threatening breathing difficulties, and weak muscle tone. The children who survive the early symptoms such as fee  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

  • 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

    Opthalmoneuromyelitis, also known as Devic disease, is an acquired condition triggered by autoimmune reactions and certain microbial infections. However, some studies suspect the involvement of genetic factors. It is a rare chronic demyelinating disorder that affects the optic nerve and spinal cord. There are two forms: monophasic and relapsing. Monophasic occurs once that lasts for 30 to 60 days. Whereas it recurs in a relaps  Read More

  • Optic nerve papillitis

    Also known as a blind spot, the optic disk is the portion of the optic nerve that enters the eye and joins with a nerve-rich membrane called the retina. the optic disk is also called the optic papilla. Inflammation and deterioration of the optic disc are called optic nerve papillitis, which causes visual impairment with varying severity, ranging from slight visual deficiency to complete loss of light perception. The disease pr  Read More

  • Optic neuromyelitis

    Optic neuromyelitis, also known as Devic's disorder or neuromyelitis optica, is a central nervous system disease that primarily affects the eye and spinal cord. Effects on the eyes are referred to as optic neuritis, whereas those on the spinal cord are called myelitis. The clinical manifestations are blindness in one or both eyes, weakness or paralysis in the legs or arms, painful spasms, loss of sensation, uncontrollable vomi  Read More

  • Oxalosis

    Often, the first sign of hyperoxaluria is a kidney stone. Symptoms of a kidney stone can include: Severe or sudden back pain Pain in the area below the ribs on the back (flank) that doesn't go away Blood in the urine Frequent urge to urinate Pain when urinating Chills or fever When to see a doctor Kidney stones in childhood are uncommon. Kidney stones th  Read More

  • Parkinson's disease and progressive supranuclear palsy

    Parkinson's disease is a progressive neurological disease that primarily affects the posture and movements of body parts. The signs and symptoms of the condition are tremors, bradykinesia, rigid muscles, impaired posture and balance, loss of automatic movements, and difficulty in writing and speaking.Progressive supranuclear palsy is a rare neurological condition that affects voluntary functions such as balance, gait, vision, speech, cog  Read More

  • Phlebitis and thrombophlebitis

    Phlebitis is an inflammation of veins, whereas thrombophlebitis is phlebitis with the clotting of blood in the affected vein. Treatment Supportive therapy includes elevation of the affected extremity, nonsteroidal anti-inflammatory drugs, warm or cold compress, compression stockings, and increased ambulation. 1. Superficial thrombophlebitis An intermediate subcutaneous dose of low-molecular-weigh  Read More

  • Pick's disease

    Pick's disease, also known as frontotemporal dementia, is the most common cause of dementia in patients under 60 and the third most common cause in patients over 65. It presents with neuropsychiatric symptoms that affect the patient's personality and those that cropped cognitive functions. It causes the degeneration of frontal and temporal cortices that reflects behavioral changes and language deficits. It is a spectrum of dem  Read More

  • Pierre robin malformation sequence

    Pierre-robin malformation sequence, also known as Pierre-Robin syndrome, is a congenital condition characterized by an underdeveloped jaw, backward displacement of the tongue, and upper airway obstruction. Another common feature is the U-shaped cleft palate. A child born with the disease has trouble breathing and feeding. Recurrent ear infections, hearing loss, natal teeth, and teeth crowding are also common. The condition is  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, Symptomatic are commonly found in individuals in their 40s. Cysts refer to the closed structures formed by one or more layers of tissues filled with fluid. Pineal cysts are made of the inner layer of gliotic cells, a middle layer of pineal parenchyma, and an outer layer of connective tissue. The fluid is proteinaceous. Cysts are either typical (unilocular) or atypical (multilocular with septations). Usually, 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

    Pure red cell aplasia (PRCA) is a very rare blood production disorder that affects the precursor of the red blood cell which are called reticulocytes. In PRCA, the bone marrow stops producing red blood cells, and this leads to low red blood cell count or anemia. This disorder usually affects adults. Red blood cells are responsible for carrying oxygen to various cells and tissues. What causes PRCA? According  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

  • Quantal squander

    Quantal squander or Issac’s syndrome is a rare neuromuscular condition. Hyperexcitability and persistent firing of the peripheral nerve axons responsible for the activation of muscle fibers is the main cause. Treatments Intravenous immunoglobulin is a solution that contains antibodies from the donors Plasma exchange helps to filter toxins and unhealthy antibodies out of the blood stream  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

  • Retinitis pigmentosa

    Retinitis pigmentosa (RP), also called hereditary retinal dystrophy, is the most common form of retinopathy. 70 to 80 % of the cases are non-syndromic, in which the patient only loses vision. On the other hand, syndromic patients suffer from systemic involvement in addition to visual impairment. Generally, the initial symptom is loss of night vision. As the disease progresses, the visual field narrows gradually. Eventually, it  Read More

  • Reye's syndrome

    In Reye's syndrome, a child's blood sugar level typically drops while the levels of ammonia and acidity in his or her blood rise. At the same time, the liver may swell and develop fatty deposits. Swelling may also occur in the brain, which can cause seizures, convulsions or loss of consciousness. The signs and symptoms of Reye's syndrome typically appear about three to five days after the onset of a viral infection, such as the flu (in  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

    According to the Medical Dictionary Database of 2010, salivosudoriparous syndrome is an autonomic disorder which occurs due to excessive sweating of the forehead, upper lip, perioral region or sternum that is successive to gustatory stimuli. It is also known as auriculotemporal syndrome or Frey’s syndrome. The most common symptoms of salivosudoriparous syndrome are as follows: 1. Spontaneous sweating in respo  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

  • 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 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

  • Subacute cerebellar degeneration

    Subacute cerebellar degeneration (SCD) is characterized by the degradation of the brain region responsible for muscular coordination and balance (the cerebellum). Less frequently, the region linking the spinal cord to the brain may be implicated (the medulla oblongata, the cerebral cortex, and the brain stem). SCD is classified into two types: 1) paraneoplastic cerebellar degeneration, which sometimes accompanies a cancer diag  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 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

    Sudeck's atrophy is also called Complex regional pain syndrome (CRPS) which is a type of persistent pain that typically affects one's arm or leg. CRPS usually arises as a result of an injury, surgery, stroke, or heart attack. The pain is excessive in comparison to the intensity of the initial damage. The specific causes of CRPS are unknown. It is assumed to be caused by a difference or injury to the peripheral and central nerv  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 mastocytosis

    Systemic mastocytosis (mas-to-sy-TOE-sis) is an uncommon condition in which too many mast cells accumulate in the body. Mast cells are a kind of white blood cell. Mast cells can be found in connective tissues all over your body. Mast cells aid in the efficient functioning of your immune system and, in most cases, help shield you from disease. Excess mast cells accumulate in your skin, bone marrow, digestive tract,  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

  • Tas midline defect

    Symptoms and Signs of tas midline defect The detailed clinical manifestations of Cantrell's pentalogy can vary greatly from person to person. Some newborns could have mild defects due to the disorder's incomplete expression. Other babies may face life-threatening complications. 1. The most severe form of Cantrell pentalogy manifests at birth with ectopia cordis and omphalocele. Ectopia Cordis is a serious co  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

  • 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

  • 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

  • Trigeminal neuralgia (tic douloureux)

    Trigeminal neuralgia (tic douloureux) is a disorder that causes one side of the face to experience pain that feels like an electric shock. The trigeminal nerve, which transmits feeling from your face to your brain, is impacted by this chronic pain syndrome. If you have trigeminal neuralgia, even slight facial stimulation, such as when you clean your teeth or put on cosmetics, can send a sharp, terrible pain through your face.  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

  • 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...

    The nerve disorder of upper brachial plexus palsy, erb-duchenne causes weakness or loss of muscle function in the shoulder and arm. Five nerves that run from the spine to the arm and hand are together known as the brachial plexus. Your shoulder, arms, and hands can feel and move thanks to these nerves. Upper brachial plexus palsy, erb-duchenne is the medical term for when these brachial plexus nerves are damaged o  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

  • Von hippel lindau disease

    The disorder known as von hippel-lindau (VHL) disease is hereditary (inherited). People with VHL have an increased risk of developing cancers in their eyes, kidneys, pancreas, adrenal glands, brain, spinal cord, and early adulthood. Most of the time, these tumors are benign (not cancer), but some of them can be malignant (cancerous). Is the von Hippel-Lindau (VHL) disease manageable? There is a 50% ri  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

    Usually, faulty modifications (mutations) in the EZH2 gene result in Wallenberg syndrome. The EZH2 gene functions wrongly as a result of these detrimental alterations. The EZH2 gene has the ability to methylate, or switch on and off, other genes. The fact that Wallenberg syndrome affects numerous body systems is due to the influence of the EZH2 gene on the operation of numerous other genes. However, it is unkn  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

  • 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

    Signs and symptoms of whiplash usually — but not always — develop within 24 hours of the injury and may include: Neck pain and stiffness Worsening of pain with neck movement Loss of range of motion in the neck Headaches, most often starting at the base of the skull Tenderness or pain in the shoulder, upper back or arms Tingling or numbness in the arms Fatigu  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 present at birth, but signs and symptoms don't appear until the copper builds up in the brain, liver or other organ. Signs and symptoms vary depending on the parts of your body affected by the disease. They can include: Fatigue, lack of appetite or abdominal pain A yellowing of the skin and the whites of the eye (jaundice) Golden-brown eye discoloration (Kayser-Fleischer rings) F  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