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

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

Branched-chain ketonuria, also known as maple syrup urine disorder, is a metabolic disorder caused by the abnormal activity of the Branched-Chain alpha-Keto Acid Dehydrogenase (BCKAD) complex. The enzyme is responsible for the metabolism of branched-chain amino acids. The deficiency of the enzymes leads to the accumulation of the substrate in plasma and urine. The high levels of keto acids lead to serious neurological manifest  Read More

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

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

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

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

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

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

The term "facio-auriculo-vertebral spectrum" describes a group of three uncommon conditions that many medical professionals think are closely related to one another and which range in severity within the same disorder. These conditions are present at birth (congenital). They involve deformities of the eyes, ears, and spine, as the name would imply. The least severe type of the disorder is represented by the facio-  Read More

Facial, limb, and genital deformities are common in faciogenital dysplasia, an extremely rare genetic disorder. In some cases, certain forms of cognitive impairments may also exist. Up till now, faciogenital dysplasia has only been linked to one gene, the FGD1 gene on the X chromosome. Treatment 1. Faciaogeny dysplasia treatment focuses on the distinctive symptoms that are present in each patient.  Read More

Frontotemporal dementia (FTD) is a neurodegenerative disorder that results in loss of memory and intellectual functions such as reasoning, abstract thinking, and executive abilities. It is the third most common cause of dementia and the second most common cause of early onset dementia in elderly persons older than 65 years. Possible causes are genetic mutations, thyroid diseases, and head trauma. There are three types of FTD: semantic variant, n  Read More

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

Hyperammonemia due to carbamoyl phosphate is one of a set of conditions known as urea cycle disorders. A crucial liver enzyme is absent in people who lack hyperammonemia due to carbamoyl phosphate. Hyperammonemia, which results from this, raises the blood's ammonia levels and can be dangerous, particularly for the brain.The majority of affected people (those with the neonatal-onset form) will exhibit symptoms withi  Read More

Hyperammonemia due to ornithine transcarbamylase deficiency, is when a newborn with an unexplained sickness that includes vomiting, progressive lethargy, and irritability should have an hyperammonemia due to ornithine transcarbamylase deficiency assessed. Blood tests may show abnormally high levels of ammonia, which is a sign of a problem with the urea cycle. However, other diseases such as organic acidemias, cong  Read More

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

Sneddon syndrome, also known as livedo reticularis and cerebrovascular, has no specific treatment. 1. There are no set treatment methods or guidelines; instead, care is symptomatic and supportive. 2. There are no therapeutic trials that have been tried on a sizable patient population due to the disease's rarity. 3. As part of single case studies or small series of patients, many treatments have been de  Read More

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

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

Multiple pterygium syndrome is a rare genetic disorder characterized by pterygium of multiple parts of the body, including the neck, fingers, elbow, armpits, thighs, and back of knees. Pterygium refers to the webbing of the skin. The condition is congenital, and progression is prenatal. There are two types of multiple pterygium diseases: Escobar and lethal. Escobar form, also known as Escobar syndrome, is a milder form and pre  Read More

Neill-Dingwall syndrome, also known as Cockayne syndrome, is a disorder characterized by a variety of clinical features, including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties. It is an autosomal recessive genetic disorder, which leads to death by the age of 12 years on ave  Read More

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

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

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

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

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

Subacute spongiform encephalopathy is also known as Creutzfeldt-Jakob disease (CJD), which is a degenerative brain condition that causes dementia and, eventually, death. Symptoms of Creutzfeldt-Jakob disease may resemble those of dementia-like brain illnesses, such as Alzheimer's. However, Creutzfeldt-Jakob disease normally advances much faster. CJD first gained public notice in the 1990s, when several persons in  Read More

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

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

The complex condition known as trigonocephaly syndrome (OTCS) is associated with a wide variety of clinical characteristics and anomalies. This preliminary diagnosis may be given to children, who may later be found to have a particular genetic disorder. Affected children are born with trigonocephaly, a malformation characterized by a triangular-shaped head, a narrow pointed forehead, a flat, broad nasal bridge wit  Read More

A rare condition known as uroporphyrinogen decarboxylase deficiency is characterized by painful, blistering skin lesions that appear on skin exposed to the sun (photosensitivity). After minimal trauma, the fragile skin of the affected area may peel or blister. The liver may also exhibit abnormalities. Low levels of the enzyme uroporphyrinogen decarboxylase are the cause of PCT (UROD). Signs and Symptoms of uroporp  Read More

A hereditary disorder called weaver-smith syndrome promotes rapid growth. Typically, symptoms in children begin before birth (prenatal onset). The main sign of the condition is rapid growth and bone maturation (maturation), which causes affected people to be taller than average. Other symptoms include intellectual impairment, tight limb muscles with poor coordination, and lax muscles in the core (hypotonia). Face and foot phys  Read More