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NINDS conducts and supports research on disorders of the spinal cord such as spinal cord infarction, aimed at learning more about these disorders and finding ways to prevent and treat them.
How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabi...
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The patient's age. - Where in the body the tumor started. - The size of the tumor at the time of diagnosis. - Whether the tumor has been comp...
Is Mondini dysplasia inherited? Mondini dysplasia usually occurs sporadically as an isolated abnormality (occurring in only one individual in a family with no other abnormalities) but it can be associated with a variety of syndromes including Klippel Feil syndrome, Pendred syndrome, DiGeorge syndrome, Wildervanck syndr...
How might Parsonage Turner syndrome be treated? Treatment for Parsonage Turner syndrome (PTS) varies based on the signs and symptoms present in each person. For example, pain medications may be prescribed depending on the severity of the nerve pain. Other techniques for pain management include application of heat or co...
Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are co...
Mutations in the EPX gene cause eosinophil peroxidase deficiency. The EPX gene provides instructions for making the eosinophil peroxidase protein. During an immune response, activated eosinophils release eosinophil peroxidase at the site of injury. This protein helps form molecules that are highly toxic to bacteria and...
Chlamydia is a common sexually transmitted disease caused by bacteria. You can get chlamydia during oral, vaginal, or anal sex with an infected partner. Both men and women can get it. Chlamydia usually doesn't cause symptoms. If it does, you might notice a burning feeling when you urinate or abnormal discharge from ...
Summary : We usually think of air pollution as being outdoors, but the air in your house or office could also be polluted. Sources of indoor pollution include - Mold and pollen - Tobacco smoke - Household products and pesticides - Gases such as radon and carbon monoxide - Materials used in the build...
MERRF is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from t...
The first step in treating urinary incontinence is to see a health care provider. He or she will give you a physical exam and take your medical history. The provider will ask about your symptoms and the medicines you use. He or she will want to know if you have been sick recently or have had surgery. Your provider also...
The NINDS supports research on gene-linked neurodegenerative disorders such as Alpers' disease. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them.
Spina bifida occulta (SBO) occurs when the bones of the spinal column do not completely close around the developing nerves of the spinal cord. In most cases SBO causes no symptoms, however cases associated with back and urogenital problems have been reported. SBO has an estimated prevalence of 12.4%.
What are the signs and symptoms of Juvenile myelomonocytic leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile myelomonocytic leukemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the...
Fear and anxiety are part of life. You may feel anxious before you take a test or walk down a dark street. This kind of anxiety is useful - it can make you more alert or careful. It usually ends soon after you are out of the situation that caused it. But for millions of people in the United States, the anxiety does not...
X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear...
These resources address the diagnosis or management of piebaldism: - Genetic Testing Registry: Partial albinism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling ...
How might Chandler's syndrome be treated? While it is not possible to halt the progression of Chandler's syndrome, the glaucoma associated with this disease can be treated with medications and/or filtering surgery. Eye drops used in managing glaucoma decrease pressure in the eye by helping the eye's fluid drain more ef...
Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. Signs and symptoms may include dif...
Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on...
Parsonage Turner syndrome is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. Although the exact cause is unknown, researchers believe that most cases are due to an autoimmune response following exposure to an il...
Anyone can get hepatitis C, but those more likely to are people who - were born to a mother with hepatitis C - are in contact with blood or infected needles at work - have had more than one sex partner in the last 6 months or have a history of sexually transmitted disease - are on kidney dialysisthe...
How is primary familial brain calcification (PFBC) diagnosed? The diagnosis of PFBC relies upon: 1) visualization of bilateral (on both sides) calcification of the basal ganglia on neuroimaging, 2) presence of progressive neurological dysfunction, 3) absence of a metabolic, infectious, toxic, or traumatic cause, an...
Corticosteroid-binding globulin deficiency is a condition with subtle signs and symptoms, the most frequent being extreme tiredness (fatigue), especially after physical exertion. Many people with this condition have unusually low blood pressure (hypotension). Some affected individuals have a fatty liver or experience c...
Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly. Other physical features typical of Turner syndrome are - Short, "webbed" neck with folds of skin from tops of shoulder...
This condition is generally not inherited but arises from gene mutations that occur in early blood-forming cells after conception. These alterations are called somatic mutations.
Factor V deficiency is inherited in an autosomal recessive pattern, which means both copies of the F5 gene in each cell have mutations. Individuals with a mutation in a single copy of the F5 gene have a reduced amount of coagulation factor V in their blood and can have mild bleeding problems, although most have no rela...
Mutations in the FZD4, LRP5, and NDP genes can cause familial exudative vitreoretinopathy. These genes provide instructions for making proteins that participate in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the proteins produced from the FZD4, LRP5, and NDP genes appear ...
Medication, exercise, and, in some cases, surgery are common treatments for this disease. Most people who have rheumatoid arthritis take medications. Some drugs only provide relief for pain; others reduce inflammation. People with rheumatoid arthritis can also benefit from exercise, but they need to maintain a good bal...
Mutations in the LMX1B gene cause nail-patella syndrome. The LMX1B gene provides instructions for producing a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the LMX1B protein is called a transcription factor. The LMX1B protein appears to be...
Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently had a viral infection. It always follows another illness. Although it mostly affects children and teens, anyone can get it. It can develop quickly and without warning. It is most common during flu season. Symptoms in...
For those with mild to moderate symptoms, many physicians suggest certain lifestyle changes and activities to reduce or eliminate symptoms. Decreased use of caffeine, alcohol, and tobacco may provide some relief. Physicians may suggest that certain individuals take supplements to correct deficiencies in iron, folate, a...
What causes progressive transformation of germinal centers? Is it genetic? The cause of progressive transformation of germinal centers (PTGC) is currently unknown. Also, there is no evidence in the medical literature that PTGC is a genetic condition.
These resources address the diagnosis or management of MOPDII: - Genetic Testing Registry: Microcephalic osteodysplastic primordial dwarfism type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Re...
Sporadic means that the condition occurs in individuals with no history of the disorder in their family. While most cases result from new (de novo) mutations that likely occur during early embryonic development, some affected individuals inherit the genetic change that causes the condition from an unaffected parent. (W...
Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In some cases, the condition may also be associated with phy...
Autoimmune atrophic gastritis is an autoimmune disorder in which the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the absorption of several key vitamins (i.e. vitamin B12, iron, folate). In some cases, autoimmu...
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.
Atopic dermatitis is a common disorder that affects 10 to 20 percent of children and 5 to 10 percent of adults.
Most people with Smith-Magenis syndrome have a deletion of genetic material from a specific region of chromosome 17. Although this region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, in each cell is responsible for most of the characteristic features of this condition. The lo...
The prevalence of Sheldon-Hall syndrome is unknown; however, it is thought to be the most common type of distal arthrogryposis. About 100 affected individuals have been described in the medical literature.
An HDL (good) cholesterol level more than 60 mg/dL is desirable for most people. Here are the ranges for HDL cholesterol levels. Do you know how your HDL cholesterol level compares?
These resources address the diagnosis or management of diastrophic dysplasia: - Gene Review: Gene Review: Diastrophic Dysplasia - Genetic Testing Registry: Diastrophic dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -...
These resources address the diagnosis or management of CATSPER1-related nonsyndromic male infertility: - Cleveland Clinic: Male Infertility - Gene Review: Gene Review: CATSPER-Related Male Infertility - Genetic Testing Registry: CATSPER-Related Male Infertility - MedlinePlus Health Topic: Assisted Reproductive Tech...
Dry mouth is the feeling that there is not enough saliva in your mouth. Everyone has a dry mouth once in a while - if they are nervous, upset or under stress. But if you have a dry mouth all or most of the time, it can be uncomfortable and can lead to serious health problems. Symptoms of dry mouth include - A ...
Mobility aids help you walk or move from place to place if you are disabled or have an injury. They include - Crutches - Canes - Walkers - Wheelchairs - Motorized scooters You may need a walker or cane if you are at risk of falling. If you need to keep your body weight off your foot, ankle or kn...
These resources address the diagnosis or management of Farber lipogranulomatosis: - Genetic Testing Registry: Farber's lipogranulomatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitati...
Ataxia neuropathy spectrum can have different inheritance patterns depending on the associated gene. Mutations in the POLG gene cause a form of the condition that 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 autoso...
Craniofacial microsomia has been estimated to occur in between 1 in 5,600 and 1 in 26,550 newborns. However, this range may be an underestimate because not all medical professionals agree on the criteria for diagnosis of this condition, and because mild cases may never come to medical attention. For reasons that are un...
Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family. Williams syndrome is considered an autosomal dominant condition bec...
How is 47 XXX syndrome diagnosed? 47 XXX syndrome may first be suspected based on the presence of certain developmental, behavioral or learning disabilities in an individual. The diagnosis can be confirmed with chromosomal analysis (karyotyping), which can be performed on a blood sample. This test would reveal the pres...
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.
Ring chromosome 14 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. In some cases, the ring chromosome is present in only some of a person's cells. This situation is known as mosaicism. ...
What causes Norrie disease? Norrie disease is caused by a change (mutation) in the NDP gene, which is located on the X chromosome. It is inherited in an X-linked recessive manner. The NDP gene provides instructions for making a protein called norrin, which affects the way cells and tissues develop. In particular, the n...
Once epilepsy is diagnosed, it is important to begin treatment as soon as possible. For about 70 percent of those diagnosed with epilepsy, seizures can be controlled with modern medicines and surgical techniques. Some drugs are more effective for specific types of seizures. An individual with seizures, particularly tho...
These resources address the diagnosis or management of acute promyelocytic leukemia: - American Cancer Society: Diagnosis of Acute Myeloid Leukemia - American Cancer Society: Treatment of Acute Promyelocytic (M3) Leukemia - Genetic Testing Registry: Acute promyelocytic leukemia - MedlinePlus Encyclopedia: Acute Mye...
Hereditary angioedema (HAE) is an immune disorder characterized by recurrent episodes of severe swelling. The most commonly affected areas of the body are the limbs, face, intestinal tract, and airway. HAE is caused by low levels or improper function of a protein called C1 inhibitor which affects the blood vessels. Thi...
What causes congenital hepatic fibrosis? Isolated congenital hepatic fibrosis is rare. Congenital hepatic fibrosis is usually associated with conditions known as hepatorenal fibrocystic diseases (FCD) that can also affect the kidneys. Examples of FCDs include polycystic kidney disease (PKD) and nephronophthisis (NPHP)....
Mutations in the TOR1A gene are inherited in an autosomal dominant pattern, which means one of the two copies of the gene is altered in each cell. Many people who have a mutation in this gene are not affected by the disorder and may never know they have the mutation. Only 30 to 40 percent of people who inherit a TOR1A ...
The inheritance pattern of restless legs syndrome is usually unclear because many genetic and environmental factors can be involved. The disorder often runs in families: 40 to 90 percent of affected individuals report having at least one affected first-degree relative, such as a parent or sibling, and many families hav...
Is Chandler's syndrome inherited? While the cause of Chandler's syndrome is unknown, at this time there is no evidence that it is inherited (hereditary).
The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the ...
Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen. Some people with a severe form may have sh...
Is 17q23.2q23.2 microdeletion syndrome inherited? Parental FISH testing in most of the reported cases confirmed a de novo origin, meaning that the deletion was new to the family.
Many cancer survivors develop problems with their mouth or teeth. Radiation or surgery to the head and neck can cause problems with your teeth and gums, the lining of your mouth, and the glands that make saliva. Certain types of chemotherapy can cause the same problems as well as dry mouth, cavities, and a change in th...
Red-green color vision defects are the most common form of color vision deficiency. This condition affects males much more often than females. Among populations with Northern European ancestry, it occurs in about 1 in 12 males and 1 in 200 females. Red-green color vision defects have a lower incidence in almost all oth...
Summary : Your child spends more time at school than anywhere else except home. Schools can have a major effect on children's health. Schools can teach children about health, and promote healthy behaviors. Physical education classes give children a chance to get exercise. Schools work to - Prevent risky behavi...
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.
You cant prevent thalassemias because theyre inherited (passed from parents to children through genes). However, prenatal tests can detect these blood disorders before birth. Family genetic studies may help find out whether people have missing or altered hemoglobin genes that cause thalassemias. (For 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.
These resources address the diagnosis or management of Sotos syndrome: - Gene Review: Gene Review: Sotos Syndrome - Genetic Testing Registry: Sotos' syndrome - MedlinePlus Encyclopedia: Increased Head Circumference These resources from MedlinePlus offer information about the diagnosis and management of various hea...
Previous chemotherapy and exposure to radiation may increase the risk of developing ALL. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if...
The best way to prevent cardiogenic shock is to lower your risk for coronary heart disease (CHD) and heart attack. (For more information, go to the National Heart, Lung, and Blood Institute's "Your Guide to a Healthy Heart.") If you already have CHD, its important to get ongoing treatment from a doctor...
What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 22? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 22. If the information is available, the table below includes how often the symptom is...
What causes Danon disease? Danon disease is caused by mutation in the LAMP2 gene. LAMP2 stands for lysosomal-associated membrane protein 2.
Locked-in syndrome is a rare neurological disorder characterized by complete paralysis of voluntary muscles in all parts of the body except for those that control eye movement. It may result from traumatic brain injury, diseases of the circulatory system, diseases that destroy the myelin sheath surrounding nerve cells,...
Key Points - Lip and oral cavity cancer is a disease in which malignant (cancer) cells form in the lips or mouth. - Tobacco and alcohol use can affect the risk of lip and oral cavity cancer. - Signs of lip and oral cavity cancer include a sore or lump on the lips or in the mouth. - Tests ...
In endemic areas of Mexico, Central America, and South America improved housing and spraying insecticide inside housing to eliminate triatomine bugs has significantly decreased the spread of Chagas disease. Further, screening of blood donations for Chagas is another important public health tool in helping to prevent tr...
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct pain research in laboratories at the NIH and also support pain research through grants to major medical institutions across the country. Currently, researchers are examining the us...
Mutations in the MCCC1 or MCCC2 gene can cause 3-MCC deficiency. These two genes provide instructions for making different parts (subunits) of an enzyme called 3-methylcrotonyl-coenzyme A carboxylase (3-MCC). This enzyme plays a critical role in breaking down proteins obtained from the diet. Specifically, 3-MCC is resp...
Yes. Ulcerative colitis is a condition in which there is a chronic break in the lining of the colon. It has been associated with an increased risk of colon cancer.
How is a MTHFR gene mutation inherited? Because each person has two copies of the MTHFR gene, people can inherit one copy of the MTHFR mutation or two copies (one from each parent). People who inherit two copies of a common MTHFR gene mutation (for example two C677T mutations or a C677T mutation and a A1298C mutation) ...
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.
These resources address the diagnosis or management of sickle cell disease: - Baby's First Test: S, Beta-Thalassemia - Baby's First Test: S, C Disease - Baby's First Test: Sickle Cell Anemia - Gene Review: Gene Review: Sickle Cell Disease - Genetic Testing Registry: Hb SS disease - Genomics Education Programme (U...
Fanconi anemia (FA) is an inherited disease. The term inherited means that the disease is passed from parents to children through genes. At least 13 faulty genes are associated with FA. FA occurs when both parents pass the same faulty FA gene to their child. People who have only one faulty FA gene are ...
A family health history is a written record of the diseases and health conditions within a family. It provides information about family members' medical histories, lifestyle habits, and early living environments.
Kuru is a rare and fatal brain disorder that occurred at epidemic levels during the 1950s-60s among the Fore people in the highlands of New Guinea. The disease was the result of the practice of ritualistic cannibalism among the Fore, in which relatives prepared and consumed the tissues (including brain) of deceased fam...
How is 11-beta-hydroxylase deficiency inherited? 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 sign...
Spastic paraplegia type 3A belongs to a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraple...
SVAS occurs in 1 in 20,000 newborns worldwide.
Mutations in the CACNA1S and SCN4A genes cause hypokalemic periodic paralysis. The CACNA1S and SCN4A genes provide instructions for making proteins that play an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated ...
In some instances, an individual will completely recover from aphasia without treatment. In most cases, however, language therapy should begin as soon as possible and be tailored to the individual needs of the person. Rehabilitation with a speech pathologist involves extensive exercises in which individuals read, write...
Certain factors affect the prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - The size of the tumor. - Where the tumor is in the anus. - Whether the cancer has spread to the lymph nodes. The treatment options depend on the following...
LHON has a mitochondrial pattern of inheritance, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from...
The course of CIDP varies widely among individuals. Some may have a bout of CIDP followed by spontaneous recovery, while others may have many bouts with partial recovery in between relapses. The disease is a treatable cause of acquired neuropathy and initiation of early treatment to prevent loss of nerve axons is recom...
Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mi...
Tietz syndrome is a rare disorder; its exact prevalence is unknown. Only a few affected families have been described in the medical literature.
What causes dermatomyositis? The cause of this disorder is unknown. It is theorized that an autoimmune reaction (reactions caused by an immune response against the body's own tissues) or a viral infection of the skeletal muscle may cause the disease. In addition, some doctors think certain people may have a genetic sus...
Certain cancer treatments can affect the salivary glands. Head and neck radiation therapy can cause the glands to produce little or no saliva. Chemotherapy may cause the salivary glands to produce thicker saliva, which makes the mouth feel dry and sticky.
Costello syndrome is considered to be an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family.