Datasets:
codexist
/
medical_data

Dataset card Data Studio Files
xet
 Community
1
data
stringlengths
25
1.5k
This condition is inherited in an autosomal dominant pattern, which means one altered or missing copy of the GLI3 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur in people with no his...
Branchio-oculo-facial syndrome is a rare condition, although the prevalence is unknown.
How is von Hippel-Lindau (VHL) disease diagnosed? The diagnosis of von Hippel-Lindau (VHL) disease can be made based on specific clinical criteria (signs and symptoms), or when molecular genetic testing reveals a mutation in the VHL gene. Tests that may be used to establish a clinical diagnosis include: MRI of the brai...
For people who are on dialysis or approaching total kidney failure, adequate nutrition is important for maintaining energy, strength, healthy sleep patterns, bone health, heart health, and good mental health. A persons treatment will dictate the type of diet that should be followed: - People on hemodia...
Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and p...
National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov For more information about intraocular lenses, or IOLs, contact: U.S. Food and Drug Administration 10903 New Hampshire Avenue Silver Spring, MD 20993-0002 1-888-...
Stuve-Wiedemann syndrome (STWS) is a congenital bone dysplasia characterized by small stature, congenital bowing of the long bones and other skeletal anomalies. Patients present with serious complications including respiratory and feeding distress and recurrent episodes of unexplained hyperthermia (elevated body temper...
Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oc...
Gray platelet syndrome can be caused by mutations in the NBEAL2 gene. Little is known about the protein produced from this gene. It appears to play a role in the formation of alpha-granules, which are sacs inside platelets that contain growth factors and other proteins that are important for blood clotting and wound he...
What causes lichen sclerosus? The underlying cause of lichen sclerosus is not fully understood. The condition may be due to genetic, hormonal, irritant and/or infectious factors (or a combination of these factors). It is believed to relate to an autoimmune process, in which antibodies mistakenly attack a component of t...
These resources address the diagnosis or management of biotinidase deficiency: - Baby's First Test - Gene Review: Gene Review: Biotinidase Deficiency - Genetic Testing Registry: Biotinidase deficiency - MedlinePlus Encyclopedia: Pantothenic Acid and Biotin These resources from MedlinePlus offer information about ...
There are no specific treatments to prevent or slow the progressive degeneration seen in Troyer syndrome. Symptomatic therapy includes antispasmodic drugs and physical therapy to improve muscle strength and maintain range of motion in the legs. Assistive devices may be needed to help with walking.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
The stomach is an organ between the esophagus and the small intestine. It mixes food with stomach acid and helps digest protein. Stomach cancer mostly affects older people - two-thirds of people who have it are over age 65. Your risk of getting it is also higher if you - Have had a Helicobacter pylori infection ...
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing primary amyloidosis of the kidneys or dialysis-related amyloidosis. People with nephrotic syndrome may make dietary changes such as - limiting dietary sodium, often from salt, to help reduce edema and lower...
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3. Fabry disease affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of sm...
Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. Affected people have reddish-orange colored patches; they may occur everywhere on the body or only on certain areas. There are several types of PRP, which are classified based on age of onset, b...
Menkes disease is caused by a defective gene named ATPTA1 that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Affected infants may be bor...
Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots of thickened skin on the palms of the hands and the soles of the feet (punctate palmoplantar keratoderma). These skin features are present ...
Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondriasmall, energy-producing structures that serve as the cells' "power plants." Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction oc...
What are the signs and symptoms of cerebellar degeneration? Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. Other signs and symptoms may include slow, unsteady and jerky movement of the arms or ...
How might Juvenile Huntington disease (HD) be treated? Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD. It is important to remember however, that while medicines may help keep these clinical symptoms under control, there is no treatment to stop or reve...
Membranous nephropathy is a kidney disease characterized by inflammation of the structures inside the kidney that help filter wastes and fluids. When the glomerular basement membrane becomes thickened, it does not work normally, allowing large amounts of protein to be lost in the urine. Symptoms develop gradually and m...
A hearing aid is a small electronic device that you wear in or behind your ear. It makes some sounds louder. A hearing aid can help people hear more in both quiet and noisy situations. Hearing aids help people who have hearing loss from damage to the small sensory cells in the inner ear. The damage can occur as a r...
Mutations in the COL11A2 gene cause Weissenbacher-Zweymller syndrome. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. ...
In some cases, a health care provider will order genetic blood tests to confirm or rule out a diagnosis of celiac disease. Most people with celiac disease have gene pairs that contain at least one of the human leukocyte antigen (HLA) gene variants.4 However, these variants are also common in people without celiac disea...
Juvenile Huntington disease (HD) is a less common, early-onset form of Huntington disease that begins in childhood or adolescence. It is also a progressive disorder that causes the breakdown of brain cells in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotion...
Mutations in the CPT2 gene cause CPT II deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation take...
These resources address the diagnosis or management of Gaucher disease: - Baby's First Test - Gene Review: Gene Review: Gaucher Disease - Genetic Testing Registry: Gaucher disease - MedlinePlus Encyclopedia: Gaucher Disease These resources from MedlinePlus offer information about the diagnosis and management of v...
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Where the tumor is in the gastrointestinal tract. - The size of the tumor. - Whether the cancer has spread from the stomach and intestines to ot...
Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain. There are several types of sinusit...
What symptoms are associated with esthesioneuroblastoma? Symptoms of esthesioneuroblastoma may include one or more of the following: Nasal obstruction Loss of smell Chronic sinus infections (sinusitis) Nasal bleeding Sinus pain and headache Visual changes
Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail...
Todd's paralysis is a neurological condition experienced by individuals with epilepsy, in which a seizure is followed by a brief period of temporary paralysis. The paralysis may be partial or complete but usually occurs on just one side of the body. The paralysis can last from half an hour to 36 hours, with an average ...
These resources address the diagnosis or management of Rett syndrome: - Boston Children's Hospital - Cleveland Clinic - Gene Review: Gene Review: MECP2-Related Disorders - Genetic Testing Registry: Rett syndrome - International Rett Syndrome Foundation: Living with Rett Syndrome - MedlinePlus Encyclopedia: Rett S...
These resources address the diagnosis or management of Renpenning syndrome: - Genetic Testing Registry: Renpenning syndrome 1 - Greenwood Genetics Center: X-Linked Intellectual Disability - Kennedy Krieger Institute: Center for Genetic Disorders of Cognition and Behavior These resources from MedlinePlus offer info...
These resources address the diagnosis or management of beta-ketothiolase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of acetyl-CoA acetyltransferase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - D...
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (level of PSA, Gleason score, grade of the tumor, how much of the prostate is affected by the cancer, and whether the cancer ha...
Glycogen storage disease type 1B (GSD1B) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. As a result, glycogen accumulates in cells throughout the body. In GSD1B, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be...
Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by a mutation in a gene, called the DMD gene, which encodes the muscle protein dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles. Duchenne...
Currently, no medication can cure Alzheimers disease, but four medicines are approved to treat the symptoms of the disease. - Aricept (donezepil)for all stages of Alzheimers - Exelon (rivastigmine)for mild to moderate Alzheimers - Razadyne (galantamine)--for mild to moderate Alzheimers - Namenda (memantine)for moder...
Treatment for CIDP includes corticosteroids such as prednisone, which may be prescribed alone or in combination with immunosuppressant drugs. Plasmapheresis (plasma exchange) and intravenous immunoglobulin (IVIg) therapy are effective. IVIg may be used even as a first-line therapy. Physiotherapy may improve muscle stre...
What are the signs and symptoms of Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jensen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to...
Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 results from mutations in the CNBP gene. The specific functions of these genes are unclear. The protein produced from the DMPK gene may play a role in communication within cells. It appears to be important for the correct functioning of cel...
The bladder is a hollow organ in your lower abdomen that stores urine. Bladder cancer occurs in the lining of the bladder. It is the sixth most common type of cancer in the United States. Symptoms include - Blood in your urine - A frequent urge to urinate - Pain when you urinate - Low back pain ...
Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. A...
Some cases of PRICKLE1-related progressive myoclonus epilepsy with ataxia are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do no...
What causes thanatophoric dysplasia? Thanatophoric dysplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the...
Original Medicare is managed by the Federal government and lets people with Medicare go to any doctor, hospital or other health care provider who accepts Medicare. It is a fee-for-service plan, meaning that the person with Medicare usually pays a fee for each service. Medicare pays its share of an approved amount up to...
How might benign multicystic peritoneal mesothelioma be treated? Surgery to remove the cystic lesions is the only effective treatment for BMPM. Aggressive surgical approaches are often recommended. Hormonal therapy has also been attempted in individual cases with variable degrees of success. Most affected individuals d...
Sjgren's syndrome can damage vital organs of the body with symptoms that may remain stable, worsen, or go into remission. Some people may experience only the mild symptoms of dry eyes and mouth, while others go through cycles of good health followed by severe disease. Many patients are able to treat problems symptomati...
Liddle syndrome is caused by mutations in the SCNN1B or SCNN1G gene. Each of these genes provides instructions for making a piece (subunit) of a protein complex called the epithelial sodium channel (ENaC). These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, incl...
These resources address the diagnosis or management of Schindler disease: - Genetic Testing Registry: Kanzaki disease - Genetic Testing Registry: Schindler disease, type 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ...
Serpiginous choroiditis is a rare inflammatory eye condition that typically develops between age 30 and 70 years. Affected individuals have lesions in the eye that last from weeks to months and involve scarring of the eye tissue. Recurrence of these lesions is common in serpiginous choroiditis. Vision loss may occur in...
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Good syndrome is a rare, adult-onset primary immunodeficiency suspected in patients who exhibit hypogammaglobulinemia and low levels of B cells along with a benign thymic tumor (thymoma) on chest X-ray. Symptoms include frequent opportunistic infections involving the sinuses and lungs, including severe CMV disease, P. ...
People who have any signs or symptoms of severe dehydration should call or see a health care provider right away: - excessive thirst - dark-colored urine - infrequent urination - lethargy, dizziness, or faintness - dry skin Infants, children, older adults, and people with weak immu...
Both types of junctional epidermolysis bullosa are rare, affecting fewer than 1 per million people in the United States.
Congenital neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Soon after birth, affected infants develop muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus). It is likely that some affected ...
Special blood tests are used to diagnose polycythemia vera. In addition to a complete blood count, bone marrow aspiration and biopsy, and cytogenetic analysis, a serum erythropoietin test is used to diagnose polycythemia vera. In this test, a sample of blood is checked for the level of erythropoietin (a hormone that st...
Estimates of the incidence of histidinemia vary widely, ranging between 1 in 8,600 to 1 in 90,000 people.
Mutations in the CHM gene cause choroideremia. The CHM gene provides instructions for producing the Rab escort protein-1 (REP-1). As an escort protein, REP-1 attaches to molecules called Rab proteins within the cell and directs them to the membranes of various cell compartments (organelles). Rab proteins are involved i...
Whipworm (Trichuris trichiura) is an intestinal parasite of humans. The larvae and adult worms live in the intestine of humans and can cause intestinal disease. The name is derived from the worm’s distinctive whip-like shape.
The exact prevalence of Miyoshi myopathy is unknown. In Japan, where the condition was first described, it is estimated to affect 1 in 440,000 individuals.
Cartilage is the tough but flexible tissue that covers the ends of your bones at a joint. It also gives shape and support to other parts of your body, such as your ears, nose and windpipe. Healthy cartilage helps you move by allowing your bones to glide over each other. It also protects bones by preventing them from ru...
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet. The patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops that are the basis for each person's unique fingerprints. Because no two people have th...
Certain factors affect prognosis (chance of recovery) and treatment options for primary myelofibrosis. Prognosis (chance of recovery) depends on the following: - The age of the patient. - The number of abnormal red blood cells and white blood cells. - The number of blasts in the blood. - Whether there ...
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Glucose-galactose malabsorption is a condition in which the cells lining the intestine cannot take in the sugars glucose and galactose, which prevents proper digestion of these molecules and larger molecules made from them. Glucose and galactose are called simple sugars, or monosaccharides. Sucrose (table sugar) and l...
Oral leukoplakia is a diagnosis of exclusion. It describes a white plaque that does not rub off and cannot be characterized as any other condition. Though it may occur in any part of the mouth, it generally affects the tongue, gums, and inner cheek. Physicians will usually biopsy oral leukoplakia lesions as 20-40% of c...
Hereditary multiple osteochondromas (HMO) (formerly called hereditary multiple exostoses) is a genetic condition in which people develop multiple benign (noncancerous) bone tumors that are covered by cartilage (called osteochondromas). The number and location of osteochondromas varies greatly among affected individuals...
Nuclear gene-encoded Leigh syndrome is a progressive neurological disease. It usually first becomes apparent in infancy with developmental delay or regression. Rarely, the disease begins in adolescence or adulthood. Symptoms progress to include generalized weakness, lack of muscle tone, spasticity, movement disorders, ...
There is no treatment that can cure or control CJD, although studies of a variety of drugs are now in progress. Current treatment is aimed at alleviating symptoms and making the person as comfortable as possible. Opiate drugs can help relieve pain, and the drugs clonazepam and sodium valproate may help relieve involunt...
The incidence of MYH9-related disorder is unknown. More than 200 affected families have been reported in the scientific literature.
Restless legs syndrome is one of the most common sleep and movement disorders. It affects an estimated 5 to 10 percent of adults and 2 to 4 percent of children in the United States. For unknown reasons, the disorder affects women more often than men. The prevalence of restless legs syndrome increases with age.
How might hyperprolinemia type 2 be treated? There is no specific treatment for hyperprolinemia type 2, even for those individuals who experience seizures. In general, if people with hyperprolinemia type 2 have symptoms, they are usually mild and do not require treatment. If seizures are present during childhood, they ...
Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes your vision to get worse over time. It is the most common condition that affects both hearing and vision. There are three types of Usher syndrome: - People with type I are deaf from bir...
These resources address the diagnosis or management of 3-hydroxyacyl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of 3-hydroxyacyl-CoA dehydrogenase - United Mitochondrial Disease Foundation: Treatments & Therapies These resources from MedlinePlus offer information about...
Summary : There are many problems that can keep a woman from enjoying sex. They include - Lack of sexual desire - Inability to become aroused - Lack of orgasm, or sexual climax - Painful intercourse These problems may have physical or psychological causes. Physical causes may include conditions li...
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedica...
There is currently no effective way to treat mitochondria abnormalities in KSS. Treatment is generally symptomatic and supportive. Management of KSS involves multiple specialties depending on the organs involved. The most essential is a regular and long-term follow-up with cardiologists. Conduction problems of heart im...
How might Ehlers-Danlos syndrome, dermatosparaxis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with moderate to severe joint hy...
What causes Norum disease? Norum disease is caused by defects in the LCAT gene. The clinical manifestations of LCAT deficiency are probably due to a defect in LCAT-mediated cholesterol ester formation and, therefore, accumulation of unesterified cholesterol in certain tissues, such as the cornea, kidneys, and erythrocy...
COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals. Individuals with COG...
These resources address the diagnosis or management of Apert syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Acrocephalosyndactyly type I - MedlinePlus Encyclopedia: Apert syndrome - MedlinePlus Encyclopedia: Webbing of the fingers or toes These resources ...
SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of 3-ketoacid CoA transferase. This enzyme is necessary for the body to use ketones. Ketones are substances produced when fat cells break down and are an important source of energy, especially when there is a shortage of glucose. SCOT de...
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Older age is a risk factor for heart valve disease. As you age, your heart valves thicken and become stiffer. Also, people are living longer now than in the past. As a result, heart valve disease has become an increasing problem. People who have a history of infective endocarditis (IE), rheumatic fever...
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to dermatomyositis in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Currently funded re...
Mutations in the MYH7 gene cause myosin storage myopathy. The MYH7 gene provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers, one of two types of fibers that make up the muscles that the body uses...
These resources address the diagnosis or management of isolated Pierre Robin sequence: - Boston Children's Hospital: Cleft Lip and Cleft Palate Treatment and Care - Genetic Testing Registry: Robin sequence - Seattle Children's Hospital: Robin Sequence Treatments These resources from MedlinePlus offer information a...
X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen ...
This condition has been reported in several families of northern Swedish ancestry.
The outcome of aphasia is difficult to predict given the wide range of variability of the condition. Generally, people who are younger or have less extensive brain damage fare better. The location of the injury is also important and is another clue to prognosis. In general, people tend to recover skills in language com...
More detailed information on heart attacks is available at www.nhlbi.nih.gov/health/dci.
The inheritance pattern of mannose-binding lectin deficiency is unclear. Some reports show that having a disease-associated mutation in one copy of the MBL2 gene in each cell can lead to the condition, while other reports state that a mutation in both copies of the gene is necessary. It is important to note that people...
Sodium is found in salt and other foods. Most canned foods and frozen dinners contain large amounts of sodium. Too much sodium makes you thirsty. But if you drink more fluid, your heart has to work harder to pump the fluid through your body. Over time, this can cause high blood pressure and congestive heart failure. ...
The NINDS supports and conducts research on neurogenetic disorders such as Aicardi syndrome. The goals of this research are to locate and understand the genes involved and to develop techniques to diagnose, treat, prevent, and ultimately cure disorders such as Aicardi syndrome.