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Mutations in the NSDHL gene cause CHILD syndrome. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals, particularly egg yolks, meat, fish, and dairy products. Alth...
The prevalence of small fiber neuropathy is unknown.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research into narcolepsy and other sleep disorders in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. ...
These resources address the diagnosis or management of Denys-Drash syndrome: - Gene Review: Gene Review: Wilms Tumor Overview - Genetic Testing Registry: Drash syndrome - MedlinePlus Encyclopedia: Nephrotic Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various he...
A stroke is a medical emergency. There are two types - ischemic and hemorrhagic. Ischemic stroke is the most common type. It is usually caused by a blood clot that blocks or plugs a blood vessel in the brain. This keeps blood from flowing to the brain. Within minutes, brain cells begin to die. Another cause is stenosis...
Prinzmetal's variant angina is characterized by recurrent episodes of chest pain that occur while an individual is at rest. This condition is a form of unstable angina because the episodes do not occur in a predictable pattern. Prinzmetal's variant angina may occur spontaneously, or it may be caused by exposure to cold...
Signs of breast cancer include a lump or change in the breast. These and other signs may be caused by breast cancer or by other conditions. Check with your doctor if you have any of the following: - A lump or thickening in or near the breast or in the underarm area. - A change in the size or shape of the bre...
Autosomal dominant PKD is the most common form of PKD and the most common inherited disorder of the kidneys.3 The term autosomal dominant means a child can get the disorder by inheriting the gene mutation from only one parent. Each child of a parent with an autosomal dominant mutation has a 50 percent chance of inherit...
NINDS supports research on brain and spinal cord disorders that can cause hypertonia. The goals of this research are to learn more about how the nervous system adapts after injury or disease and to find ways to prevent and treat these disorders.
Littoral cell angioma (LCA) is a vascular tumor of the spleen. A vascular tumor is an overgrowth of blood vessels. The condition was first described in 1991. In many cases, LCA does not produce any symptoms and is found when tests are being performed for other reasons (an incidental finding). However, in some cases, i...
The NINDS supports and conducts a wide range of research on spinal cord disorders such as BSS. The goal of this research is to find ways to prevent, treat, and, ultimately, cure these disorders.
The complete form of inherited thyroxine-binding globulin deficiency, TBG-CD, affects about 1 in 15,000 newborns worldwide. The partial form, TBG-PD, affects about 1 in 4,000 newborns. These conditions appear to be more common in the Australian Aborigine population and in the Bedouin population of southern Israel.
Optic atrophy type 1 is a condition that affects vision. Individuals with this condition have progressive vision loss that typically begins within the first decade of life. The severity of the vision loss varies widely among affected people, even among members of the same family. People with this condition can range fr...
Pemphigus is an autoimmune disorder. If you have it, your immune system attacks healthy cells in your skin and mouth, causing blisters and sores. No one knows the cause. Pemphigus does not spread from person to person. It does not appear to be inherited. But some people's genes put them more at risk for pemphigus. P...
What are the signs and symptoms of Familial erythema nodosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythema nodosum. 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 M...
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.
Osteoarthritis often results from years of wear and tear on joints. This wear and tear mostly affects the cartilage, the tissue that cushions the ends of bones within the joint. Osteoarthritis occurs when the cartilage begins to fray, wear away, and decay. Putting too much stress on a joint that has been repeatedly inj...
Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accomp...
Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys. In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distri...
Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kea...
The prevalence of Kearns-Sayre syndrome is approximately 1 to 3 per 100,000 individuals.
Leukoplakia is a condition in which thickened, white patches form on the tongue, gums, inside of the cheek, or sometimes on the outer female genitals. Although the sores can vary in appearance, they are usually white or gray; thick; and slightly raised with a hard surface. The condition is thought to be caused by irrit...
How might hereditary leiomyomatosis and renal cell cancer be treated? Skin growths (cutaneous leiomyomas) associated with hereditary leiomyomatosis and renal cell cancer (HLRCC) should be examined by a dermatologist. Treatment of these may include surgery to remove a painful growth; cryoablation and/or lasers; and/or m...
How is osteogenesis imperfecta inherited? Osteogenesis imperfecta (OI) is most commonly inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of OI. The mutated copy of the gene may be inherited from an affected...
Following a healthy lifestyle and taking steps to lower your risk for heart disease may help you prevent atrial fibrillation (AF). These steps include: Following a heart healthy diet that's low in saturated fat, trans fat, and cholesterol. A healthy diet includes a variety of whole grains, fruits, and ...
Mutations in the GBE1 gene cause GSD IV. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of glycogen, which is a major source of stored energy in the body. GBE1 gene mutations that cause GSD IV lead to a shortage (deficiency) of the glycogen branch...
Plasminogen activator inhibitor type 1 (PAI-1) deficiency a rare disorder that causes premature breakdown of blood clots and a moderate bleeding syndrome. While spontaneous bleeding is rare, moderate hemorrhages of the knees, elbows, nose and gums may be triggered by mild trauma. In females, menstrual bleeding is often...
Turner syndrome is related to the X chromosome, which is one of the two sex chromosomes. People typically have two sex chromosomes in each cell: females have two X chromosomes, while males have one X chromosome and one Y chromosome. Turner syndrome results when one normal X chromosome is present in a female's cells and...
Signs of adult Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. These and other signs and symptoms may be caused by adult Hodgkin lymphoma or by other conditions. Check with your doctor if any of the following do not go away: - Painless, swollen lymph nodes in the neck, undera...
Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells. This leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and or...
Enzyme replacement therapy for both Wolman's and cholesteryl ester storage disease is currently under investigation. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with CESD may benefit from a low cholesterol diet.
How might giant congenital nevus be treated? Treatment for giant congenital nevus depends on the age of the affected individual as well as the size, location, and thickness of the nevus. Surgery may be done to remove the nevus, particularly when there is a concern that it may develop into a melanoma. When small nevi ar...
How are basilar migraines treated? During episodes of basilar migraines, people are generally treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and antiemetic medications to help alleviate the symptoms. In some cases, a nerve block can be used to treat pain if other therapies are ineffective. In people with ep...
Hypersomnia is characterized by recurrent episodes of excessive daytime sleepiness or prolonged nighttime sleep. Different from feeling tired due to lack of or interrupted sleep at night, persons with hypersomnia are compelled to nap repeatedly during the day, often at inappropriate times such as at work, during a meal...
These quit smoking websites offer you free, accurate information and professional assistance to help support the immediate and long-term needs of people trying to quit smoking. The National Cancer Institute sponsors - Smokefree 60+.gov, a quit-smoking website for older adults - Smokefree.gov - SmokefreeWomen - Smo...
1q21.1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms. In at least half of cases, individuals ...
How might hereditary cerebral hemorrhage with amyloidosis - Dutch type be treated? There is no known effective treatment for hereditary cerebral hemorrhage with amyloidosis - Dutch type. Treatment is supportive and based on the control of symptoms. In some cases, rehabilitation is needed for weakness or clumsiness. Thi...
The signs and symptoms of childhood nephrotic syndrome may include - edemaswelling, most often in the legs, feet, or ankles and less often in the hands or face - albuminuriawhen a childs urine has high levels of albumin - hypoalbuminemiawhen a childs blood has low levels of albumin - hyperlipidemiaw...
How might multiple myeloma be treated? The treatment of multiple myeloma varies based on many factors including the age and general health of the affected person; the associated signs and symptoms; and the severity of the condition. In general, one or more of the following interventions may be used to treat multiple my...
The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on either side of the windpipe. The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system ...
These resources address the diagnosis or management of distal hereditary motor neuropathy, type V: - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy - Gene Review: Gene Review: GARS-Associated Axonal Neuropathy - Genetic Testing Registry: Distal hereditary motor neuronopathy type 5 - Genet...
The prognosis for patients with mitochondrial myopathies varies greatly, depending largely on the type of disease and the degree of involvement of various organs. These disorders cause progressive weakness and can lead to death.
Is Poland syndrome inherited? Poland syndrome is rarely inherited and generally sporadic. Sporadic refers to the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. In the few reported familial cases, researchers suggest that the condition may have stemmed from an inherit...
The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - prevent...
The standard treatment for Whipple's disease is a prolonged course of antibiotics (up to two years), including penicillin and cefriaxone or doxycycline with hydroxychloroquine. Sulfa drugs (sulfonamides) such as sulfadizine or solfamethoxazole can treat neurological symptoms. Relapsing neurologic Whipple's disease. (ma...
DMD-associated dilated cardiomyopathy results from mutations in the DMD gene. This gene provides instructions for making a protein called dystrophin, which helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells. The mutations responsible for DMD-associated dilated cardiomyopath...
What are the signs and symptoms of Early infantile epileptic encephalopathy 25? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 25. If the information is available, the table below includes how often the symptom is seen in people with this cond...
How is Lemierre syndrome diagnosed? After performing blood cultures and complete blood counts, contrast computed tomography (CT) of the neck provides the definitive diagnosis. Ultrasound can also confirm internal jugular vein thrombosis.
The main cause of respiratory distress syndrome (RDS) is a lack of surfactant in the lungs. Surfactant is a liquid that coats the inside of the lungs. A fetus's lungs start making surfactant during the third trimester of pregnancy (weeks 26 through labor and delivery). The substance coats the insides o...
Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development. The most common symptom is infertility. Boys may be taller than other boys their age, with more fat around the belly. After puberty, KS b...
Summary : Your liver helps your body digest food, store energy, and remove poisons. Liver function tests are blood tests that check to see how well your liver is working. They check for liver damage, and can help diagnose liver diseases such as hepatitis and cirrhosis. You may have liver function tests as part of a reg...
These resources address the diagnosis or management of fibrodysplasia ossificans progressiva: - Genetic Testing Registry: Progressive myositis ossificans These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery ...
How might a chordoma be treated? Unfortunately, because chordomas are quite rare, the best treatment for these tumors has yet to be determined. The current treatment for chordoma of the clivus often begins with surgery (resection) to remove as much of the tumor as possible. The extent of surgery, or the amount of tum...
A CDKL5-related disorder is a genetic, neuro-developmental condition due to changes (mutations) in the CDKL5 gene. Epileptic encephalopathy (epilepsy accompanied by cognitive and behavioral problems) is the core symptom of a CDKL5-related disorder. Seizures typically begin before 5 months of age. Affected people often ...
Osteonecrosis is a disease caused by reduced blood flow to bones in the joints. In people with healthy bones, new bone is always replacing old bone. In osteonecrosis, the lack of blood causes the bone to break down faster than the body can make enough new bone. The bone starts to die and may break down. You can have...
What causes afibrinogenemia? Afibrinogenemia is caused by a severe lack of fibrinogen (coagulation factor I), a protein in the blood that is essential in the blood clotting (coagulation) process. This defect in fibrinogen synthesis can result from mutations in one or another of the fibrinogen genes alpha (FGA), beta (F...
These resources address the diagnosis or management of aromatase excess syndrome: - Genetic Testing Registry: Familial gynecomastia, due to increased aromatase activity These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Ther...
Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene. This gene provides instructions for producing a protein called antithrombin (previously known as antithrombin III). This protein is found in the bloodstream and is important for controlling blood clotting. Antithrombin blocks the activity o...
Parkinson's disease is a brain disorder that leads to shaking, stiffness, and difficulty with walking, balance, and coordination. It currently affects about half a million people in the United States, although the numbers may be much higher. Parkinson's disease is both chronic, meaning it lasts for a long time, and pro...
These resources address the diagnosis or management of glutamate formiminotransferase deficiency: - Baby's First Test - Genetic Testing Registry: Glutamate formiminotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti...
Hematuria is treated by treating its underlying cause. If no serious condition is causing hematuria, no treatment is needed. Hematuria caused by a UTI is treated with antibiotics; urinalysis should be repeated 6 weeks after antibiotic treatment ends to be sure the infection has resolved.
These resources address the diagnosis or management of 15q13.3 microdeletion: - Gene Review: Gene Review: 15q13.3 Microdeletion - Genetic Testing Registry: 15q13.3 microdeletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic...
These resources address the diagnosis or management of pseudohypoaldosteronism type 1: - Genetic Testing Registry: Pseudohypoaldosteronism type 1 autosomal dominant - Genetic Testing Registry: Pseudohypoaldosteronism type 1 autosomal recessive - MedlinePlus Encyclopedia: Hyponatremia - University of Maryland Medica...
How is Holt-Oram syndrome diagnosed? The diagnosis of Holt-Oram syndrome can be established based on physical features and family history. It can be confirmed through genetic testing looking for mutations in the TBX5 gene. Hand x-rays are usually performed for upper-limb malformations. A family history of this conditio...
These resources address the diagnosis or management of van der Woude syndrome: - Gene Review: Gene Review: IRF6-Related Disorders - Genetic Testing Registry: Van der Woude syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests...
Microcephaly is a rare neurological condition in which a person's head is significantly smaller than expected based on standardized charts. Some cases of microcephaly are detected at birth, while others develop in the first few years of life. Some children with microcephaly have normal intelligence and development. How...
What are the signs and symptoms of Gastroschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastroschisis. 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 loo...
Most individuals with myotonia congenita lead long, productive lives. Although muscle stiffness may interfere with walking, grasping, chewing, and swallowing, it is usually relieved with exercise.
These resources address the diagnosis or management of McLeod neuroacanthocytosis syndrome: - Gene Review: Gene Review: McLeod Neuroacanthocytosis Syndrome - Genetic Testing Registry: McLeod neuroacanthocytosis syndrome These resources from MedlinePlus offer information about the diagnosis and management of various...
These resources address the diagnosis or management of GACI: - Gene Review: Gene Review: Generalized Arterial Calcification of Infancy - Genetic Testing Registry: Generalized arterial calcification of infancy 2 These resources from MedlinePlus offer information about the diagnosis and management of various health c...
How might Ehlers-Danlos syndrome, kyphoscoliosis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with hypotonia and delayed motor d...
Can dislocated lenses in patients with Axenfeld-Rieger syndrome be treated? We were unable to find information in the medical literature regarding the management of dislocated lenses in patients with Axenfeld-Rieger syndrome. We encourage you to speak with a healthcare provider experienced in the management of rare eye...
What are the signs and symptoms of situs inversus? In isolated situs inversus (occurring alone with no other abnormalities), there is a complete mirror image transposition of the thoracic (chest) and abdominal organs, and anterior-posterior (front-back) symmetry is normal. Many affected people have no associated health...
What causes hemangiopericytoma? The cause of the disease is unknown, and no strong clinical data exist to indicate a convincing link to specific causes. Some reports suggest a relationship between hemangiopericytoma and occupational vinyl chloride exposure, as well as exposure to herbicides.
Fibronectin glomerulopathy is likely a rare condition, although its prevalence is unknown. At least 45 cases have been described in the scientific literature.
- Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. - Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly tota...
These resources address the diagnosis or management of PRICKLE1-related progressive myoclonus epilepsy with ataxia: - Gene Review: Gene Review: PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia - Genetic Testing Registry: Progressive myoclonus epilepsy with ataxia These resources from MedlinePlus offer in...
Agnosia is a rare disorder characterized by an inability to recognize and identify objects or persons. People with agnosia may have difficulty recognizing the geometric features of an object or face or may be able to perceive the geometric features but not know what the object is used for or whether a face is familiar ...
A person with hemochromatosis may notice one or more of the following symptoms: - joint pain - fatigue, or feeling tired - unexplained weight loss - abnormal bronze or gray skin color - abdominal pain - loss of sex drive Not everyone with hemochromatosis will develop these symptom...
If you have advanced chronic kidney disease (CKD), you may soon need treatment to do the work your kidneys can no longer do. Learning about your treatment options for kidney failure will help you make the best choice for you. Each treatment has pros and cons. Your choice of treatment will have a big effect on your dail...
Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affect...
Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occur in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound call...
These resources address the diagnosis or management of Cornelia de Lange syndrome: - Gene Review: Gene Review: Cornelia de Lange Syndrome - Genetic Testing Registry: De Lange syndrome - MedlinePlus Encyclopedia: Autism - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer information abo...
Langerhans cell histiocytosis is a rare disorder. Its prevalence is estimated at 1 to 2 in 100,000 people.
The prognosis for Canavan disease is poor. Death usually occurs before age 10, although some children may survive into their teens and twenties.
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.
Anti-epileptic drugs are usually not effective in controlling seizures. Recent studies have shown some success with treatments that suppress or modulate the immune system, in particular those that use corticosteroids, intravenous immunoglobulin, or tacrolimus. Surgery to control seizures may be performed in later stage...
There is no definitive cure for essential tremor. Symptomatic drug therapy may include propranolol or other beta blockers and primidone, an anticonvulsant drug. Eliminating tremor "triggers" such as caffeine and other stimulants from the diet is often recommended. Physical and occupational therapy may help to reduce tr...
What causes isovaleric acidemia? Isovaleric acidemia is caused by mutations in the IVD gene. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a ...
This condition appears to be rare; it has been reported in only a few individuals and families worldwide.
Spinal muscular atrophy affects 1 in 6,000 to 1 in 10,000 people.
How is bronchiolitis obliterans organizing pneumonia (BOOP) diagnosed? BOOP is typically diagnosed by lung biopsy, although imaging tests and pulmonary function tests can also provide information for diagnosis.
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.
ALG12-CDG is a rare condition; its prevalence is unknown. Only a handful of affected individuals have been described in the medical literature.
Macular degeneration, or age-related macular degeneration (AMD), is a leading cause of vision loss in Americans 60 and older. It is a disease that destroys your sharp, central vision. You need central vision to see objects clearly and to do tasks such as reading and driving. AMD affects the macula, the part of the ...
Is genetic testing available for schizencephaly? In rare cases, people affected by schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Genetic testing is available for these families. How is schizencephaly diagnosed? Schizencephaly is typically diagnosed by computed t...
The symptoms for diverticulosis and diverticulitis are different. Diverticulosis. Many people don't have symptoms, but some people have cramping, bloating, and constipation. Some people also have bleeding, inflammation, and fistulas. If you are bleeding, bright red blood will pass through your rectum. ...
These resources address the diagnosis or management of oculofaciocardiodental syndrome: - Genetic Testing Registry: Oculofaciocardiodental syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Re...
Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis A, hepatitis B, and hepatitis C. Others can be the result of drugs, poisons or drinking too much alcohol. If the liver...
If too much scar tissue forms, your liver could fail. Then you will need a liver transplant. A liver transplant can return you to good health. For information about liver transplantation, see the booklet What I need to know about Liver Transplantation from the National Institute of Diabetes and Digestive and Kidney Dis...