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A small percentage of all cases of familial atrial fibrillation are associated with changes in the KCNE2, KCNJ2, and KCNQ1 genes. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions) of potassium into and out of cell...
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.
Sciatica is a symptom of a problem with the sciatic nerve, the largest nerve in the body. It controls muscles in the back of your knee and lower leg and provides feeling to the back of your thigh, part of your lower leg, and the sole of your foot. When you have sciatica, you have pain, weakness, numbness, or tingling. ...
Within the NINDS research programs, pinched nerves are addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as pinched nerves.
Type I citrullinemia is the most common form of the disorder, affecting about 1 in 57,000 people worldwide. Type II citrullinemia is found primarily in the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 individuals. Type II also has been reported in other populations, including people from...
Triglycerides are another kind of fat that your liver makes. They can also signal an increased chance of developing heart disease.
Glutaric acidemia type I (GA1) is an inherited disorder in which the body can't process certain proteins properly. People with GA1 have inadequate levels of an enzyme needed to break down certain amino acids. These amino acids and their intermediate breakdown products can accumulate, causing damage to the brain (partic...
Juvenile hyaline fibromatosis is a disorder that affects the skin, joints, and bones. Individuals with this condition typically begin to develop signs and symptoms within the first few years of life. Juvenile hyaline fibromatosis is characterized by skin bumps that frequently appear on the hands, neck, scalp, ears, and...
Talk to your doctor when you first notice symptoms of neuropathy. Certain medications and other approaches, such as physical therapy, may help alleviate symptoms. There are some steps you can take yourself. Pay careful attention to your hands and feet, and check them for wounds. Pay attention when you walk and avoid fa...
Is ankylosing spondylitis inherited? Although ankylosing spondylitis (AS) can affect more than one person in a family, it is not a purely genetic disease. While genes seem to play a role, the exact cause of AS is not known. It is considered to be multifactorial, which means that multiple genetic and environmental facto...
Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue. Onset is in childhood or early adolescence. After recurrent attacks (ranging from days to years in bet...
What causes glycogen storage disease type 13? Glycogen storage disease type 13 (GSD13) is caused by changes (mutations) in the ENO3 gene. Glycogen is a substance that is stored in muscle tissue and is used as an important source of energy for the muscles during movement and exercise. The ENO3 gene makes a chemical ca...
Currently, no treatment can stop Alzheimer's disease. However, four medications are used to treat its symptoms. These medicines may help maintain thinking, memory, and speaking skills for a limited time. They work by regulating certain chemicals in the brain. Most of these medicines work best for people in the early or...
What are the signs and symptoms of Stenotrophomonas maltophilia infection? S. maltophilia bacteria usually colonize (live in or on) areas of the body without causing infection. In these cases, people have no signs or symptoms of a bacterial infection. When present, the features of Stenotrophomonas maltophilia (S. malto...
What causes hepatocellular carcinoma, childhood? A review of the literature suggests that knowledge regarding the cause of hepatocellular carcinoma in children is lacking due to the rarity of this disease. Children living in regions of the world where heptatitis B virus is common have been reported to have a much grea...
How is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency diagnosed? A diagnosis of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm...
Treatment for dysgraphia varies and may include treatment for motor disorders to help control writing movements. Other treatments may address impaired memory or other neurological problems. Some physicians recommend that individuals with dysgraphia use computers to avoid the problems of handwriting.
Crohn disease is most common in western Europe and North America, where it affects 100 to 150 in 100,000 people. About one million Americans are currently affected by this disorder. Crohn disease occurs more often in whites and people of eastern and central European (Ashkenazi) Jewish descent than among people of other...
To confirm a diagnosis of gout, the doctor inserts a needle into the inflamed joint and draws a sample of synovial fluid, the substance that lubricates a joint. A laboratory technician places some of the fluid on a slide and looks for uric acid crystals under a microscope. If uric acid crystals are found in the fluid s...
Ehlers-Danlos syndrome progeroid type is a genetic disorder of the connective tissue, which is the material between the cells of the body that gives tissues form and strength. The disorder primarily affects the skin, hair, and skeletal system. Symptoms usually show up by childhood or adolescence. Like people with other...
Most cases of congenital hypothyroidism are sporadic, which means they occur in people with no history of the disorder in their family. When inherited, the condition usually has an autosomal recessive inheritance pattern, which means both copies of the gene in each cell have mutations. Typically, the parents of an ind...
The prognosis for individuals with apraxia varies and depends partly on the underlying cause. Some individuals improve significantly while others may show very little improvement.
Currently, there is no cure for SSPE. Clinical trials of antiviral (isoprinosine and ribavirin) and immunomodulatory (interferon alpha) drugs have suggested that these types of therapies given alone or in combination halt the progression of the disease and can prolong life, but their long-term effects on individuals, a...
Key Points - Chronic myelomonocytic leukemia is a disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow. - Older age and being male increase the risk of chronic myelomonocytic leukemia. - Signs and symptoms of chronic myelomonocytic leukemi...
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.
Lactose intolerance means that you cannot digest foods with lactose in them. Lactose is the sugar found in milk and foods made with milk. After eating foods with lactose in them, you may feel sick to your stomach. You may also have - Gas - Diarrhea - Swelling in your stomach Your doctor may do a...
Over time, Paget's disease may lead to other medical conditions, including arthritis, headaches, hearing loss, and nervous system problems, depending on which bones are affected. On very rare occasions, Paget's disease is associated with the development of osteosarcoma, a type of bone cancer. Less than one percent of p...
Fish-eye disease is a rare disorder. Approximately 30 cases have been reported in the medical literature.
How do people inherit dentinogenesis imperfecta? Dentinogenesis imperfecta is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
The prevalence of polycythemia vera varies worldwide. The condition affects an estimated 44 to 57 per 100,000 individuals in the United States. For unknown reasons, men develop polycythemia vera more frequently than women.
What causes Wilson disease? Wilson disease is caused by changes (mutations) in the ATP7B gene. This gene encodes a protein that plays an important role in the transport of copper from the liver to the rest of the body. It also helps remove excess copper from the body. Mutations in the ATP7B gene prevent this protein fr...
When you cough, mucus (a slimy substance) may come up. Coughing helps clear the mucus in your airways from a cold, bronchitis, or other condition. Rarely, people cough up blood. If this happens, you should call your doctor right away. A cough may be a symptom of a medical condition. Thus, it may occur ...
Health history can affect the risk of testicular cancer. Anything that increases the chance 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 you think...
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 dominant pattern, which means a genetic rearrangement involving one copy of the CYP19A1 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new genetic changes and oc...
When you are ready to have your baby, you'll go through labor. Contractions let you know labor is starting. When contractions are five minutes apart, your body is ready to push the baby out. During the first stage of labor, your cervix slowly opens, or dilates, to about 4 inches wide. At the same time, it becomes th...
What causes hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is caused by a mutation in the TUBB4A gene. The mutation usually occurs for the first time in a family as a result of a new mutation in the affected individual. The muta...
Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes is a disorder of metabolism the way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and sta...
Testicular cancer is the most common cancer in men aged 15 to 34 years. Testicular cancer is very rare, but it is the most common cancer found in men between the ages of 15 and 34. White men are four times more likely than black men to have testicular cancer
Microscopic polyangiitis (MPA) is a disorder that causes blood vessel inflammation (vasculitis), which can lead to organ damage. The kidneys, lungs, nerves, skin, and joints are the most commonly affected areas of the body. MPA is diagnosed in people of all ages, all ethnicities, and both genders. The cause of this dis...
What are the signs and symptoms of Preauricular sinus? The Human Phenotype Ontology provides the following list of signs and symptoms for Preauricular sinus. 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 Diction...
What are the signs and symptoms of Ambras syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ambras 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...
SYNGAP1-related intellectual disability is classified as an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In at least one...
Nail-patella syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the LMX1B gene. These cases occur...
Although NASH has become more common, its underlying cause is still not clear. It most often occurs in persons who are middle-aged and overweight or obese. Many patients with NASH have elevated blood lipids, such as cholesterol and triglycerides, and many have diabetes or prediabetes, but not every obese person or ever...
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.
A miscarriage is the loss of pregnancy from natural causes before the 20th week of pregnancy. Most miscarriages occur very early in the pregnancy, often before a woman even knows she is pregnant. There are many different causes for a miscarriage. In most cases, there is nothing you can do to prevent a miscarriage. F...
How is schistosomiasis diagnosed? Examination of stool and/or urine for ova is the primary method of diagnosis for schistosomiasis. The choice of sample depends on the suspected species, which may be determined by careful review of travel and residence history. The sensitivity of this testing can be limited by the inte...
Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Adult height ranges from 42 inches to 58 inches. Affected individuals hav...
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most...
These resources address the diagnosis or management of Smith-Lemli-Opitz syndrome: - Gene Review: Gene Review: Smith-Lemli-Opitz Syndrome - Genetic Testing Registry: Smith-Lemli-Opitz syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag...
Bladder cancer is a disease in which certain cells in the bladder become abnormal and multiply without control or order. The bladder is a hollow, muscular organ in the lower abdomen that stores urine until it is ready to be excreted from the body. The most common type of bladder cancer begins in cells lining the inside...
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.
Oculopharyngeal muscular dystrophy (OPMD) is a genetic muscle disorder with onset during adulthood, most often between 40 and 60 years of age. This condition is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. There are two types of OPMD, which are...
You can try several things that might help prevent or relieve lymphedema. - Watch for signs of swelling or infection (redness, pain, heat, and fever). Tell your health care provider if your arm or leg is painful or swollen. - Avoid getting cuts, insect bites, or sunburn in the affected area. - Keep your skin clean ...
Lymphomatoid papulosis is a skin disorder that is characterized by crops of self healing skin lesions that look cancerous under the microscope but are actually benign (non-cancerous). Lesions contain unusual cells that are similar to those found in some lymphomas (cancers of the lymphatic system).
What causes Arts syndrome? Arts syndrome is caused by mutations in the PRPS1 gene. This gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, the building blocks of DNA, RNA, and molecules suc...
How might familial atrial fibrillation be treated? We are unaware of treatment recommendations specific to familial atrial fibrillation, but there is information available about treatment for atrial fibrillation in general. Treatment for atrial fibrillation depends on the frequency and severity of symptoms and may invo...
Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have ...
Menopause is the time in a woman's life when her period stops. It usually occurs naturally, most often after age 45. Menopause happens because the woman's ovaries stop producing the hormones estrogen and progesterone. A woman has reached menopause when she has not had a period for one year. Changes and symptoms can...
Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). The C...
The worldwide incidence of glycine encephalopathy is unknown. Its frequency has been studied in only a few regions: this condition affects about 1 in 55,000 newborns in Finland and about 1 in 63,000 newborns in British Columbia, Canada.
Peyronies disease is a disorder in which scar tissue, called a plaque, forms in the penisthe male organ used for urination and sex. The plaque builds up inside the tissues of a thick, elastic membrane called the tunica albuginea. The most common area for the plaque is on the top or bottom of the penis. As the plaque bu...
Recovery depends upon how quickly treatment is received and how severely the body is compromised. Paralysis may persist for many weeks or be permanent. Most individuals have a good chance of recovery.
NINDS is the leading supporter of research on stroke and TIA in the U.S. and sponsors studies ranging from clinical trials to investigations of basic biological mechanisms as well as studies with animals.
The incidence of this condition is uncertain, but researchers estimate that the disorder affects 1 in 40,000 to 50,000 people.
Most cases of Moebius syndrome are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a single clear pattern of inheritance.
What are the signs and symptoms of Hypochromic microcytic anemia with iron overload? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochromic microcytic anemia with iron overload. If the information is available, the table below includes how often the symptom is seen in people with...
Generally treatment for individuals with BSS focuses on the underlying cause of the disorder. Early treatment with high-dose steroids may be beneficial in many cases. Other treatment is symptomatic and supportive.
How is factor V Leiden inherited? Factor V Leiden is a genetic condition and can be inherited from a parent. It is important to understand that each person inherits two copies of every gene, one from their mother and the other copy from their father. Individuals who inherit one copy of the factor V Leiden mutation fro...
The prevalence of ADCY5-related dyskinesia is unknown. At least 50 affected individuals have been described in the medical literature.
Familial stomach cancer is a cluster of stomach cancer within a family. Most cases of stomach cancer occur sporadically in people with little to no family history of the condition; however, approximately 10% of stomach cancer is considered "familial." Although the underlying cause of some familial cases is unknown, gen...
How is disseminated peritoneal leiomyomatosis (DPL) diagnosed? An ultrasound may reveal the presence of nodules (lumps) which may indicate disseminated peritoneal leiomyomatosis (DPL). However, DPL can only be confirmed by a biopsy of the nodule. The nodules should contain smooth muscle cells with no atypia (no abnorma...
Tetanus is a serious illness caused by Clostridium bacteria. The bacteria live in soil, saliva, dust, and manure. The bacteria can enter the body through a deep cut, like those you might get from stepping on a nail, or through a burn. The infection causes painful tightening of the muscles, usually all over the body....
SLC4A1-associated distal renal tubular acidosis can have different patterns of inheritance. It is usually inherited in an autosomal dominant pattern, which means one copy of the altered SLC4A1 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affecte...
Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, defo...
Craniofacial-deafness-hand syndrome is caused by mutations in the PAX3 gene. The PAX3 gene plays a critical role in the formation of tissues and organs during embryonic development. To perform this function, the gene provides instructions for making a protein that attaches (binds) to specific areas of DNA to help contr...
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 Association for Macular Diseases 210 East 64th Street, 8th Floor New York, NY 10021-7471 212-605-3719 Foundation Fighting Blindness Executive Plaza 1, Suite 800 ...
These resources address the diagnosis or management of Crohn disease: - Genetic Testing Registry: Inflammatory bowel disease 1 - MedlinePlus Encyclopedia: Crohn's disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug T...
You can prevent asbestos-related lung diseases by limiting your exposure to asbestos fibers. If your job requires you to work around asbestos, make sure to follow workplace rules for handling it. For example, make sure that air levels are measured, and wear a proper respirator to avoid breathing in asbestos fibers. ...
Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis). People affected by this condition may experience a headache and fever for up to 5 days, followed by personality and behavioral changes; seizures; hallucinations; and altered levels of consciou...
How might pachydermoperiostosis be treated? Treatment for pachydermoperiostosis mainly focuses on the specific signs and symptoms present in each individual. Bone and joint pain may be treated with nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids or colchicine. A vagotomy, a surgical procedure in which ce...
How might dihydropyrimidine dehydrogenase deficiency be treated in infants and children? Currently, no treatment or cure exists for the inborn error of metabolism form of DHD deficiency. Symptoms usually remain the same throughout the person's life.
Congenital mirror movement disorder is a very rare disorder. Its prevalence is thought to be less than 1 in 1 million. Researchers suggest that some mildly affected individuals may never be diagnosed.
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 prevalence of systemic scleroderma is estimated to range from 50 to 300 cases per 1 million people. For reasons that are unknown, women are four times more likely to develop the condition than men.
GRN-related frontotemporal dementia affects an estimated 3 to 15 per 100,000 people aged 45 to 64. This condition accounts for 5 to 10 percent of all cases of frontotemporal dementia.
How is CREST syndrome diagnosed? CREST syndrome can be difficult to diagnose. Signs and symptoms vary widely and often resemble those of other connective tissue and autoimmune diseases. Further complicating matters is that limited scleroderma sometimes occurs with other autoimmune conditions such as polymyositis, lupu...
The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities ...
Hairy cell leukemia is a rare, slow-growing cancer of the blood in which the bone marrow makes too many B cells (lymphocytes), a type of white blood cell that fights infection. The condition is named after these excess B cells which look 'hairy' under a microscope. As the number of leukemia cells increases, fewer healt...
Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria ar...
How is Gardner-Diamond syndrome diagnosed? There are no specific laboratory tests that can confirm the diagnosis of Gardner-Diamond syndrome (GDS), but various tests may be used to rule out other conditions. The diagnosis may be considered based on the presence of symptoms, when all other causes of bleeding have been r...
Xeroderma pigmentosum is a rare disorder; it is estimated to affect about 1 in 1 million people in the United States and Europe. The condition is more common in Japan, North Africa, and the Middle East.
These resources address the diagnosis or management of hyperkalemic periodic paralysis: - Gene Review: Gene Review: Hyperkalemic Periodic Paralysis - Genetic Testing Registry: Familial hyperkalemic periodic paralysis - Genetic Testing Registry: Hyperkalemic Periodic Paralysis Type 1 - MedlinePlus Encyclopedia: Hype...
Most cases of retroperitoneal fibrosis are sporadic, which means that they occur in people with no apparent history of the disorder in their family. In rare cases, the condition has been reported to occur in a few members of the same family, but the inheritance pattern is unknown.
The incidence of X-linked myotubular myopathy is estimated to be 1 in 50,000 newborn males worldwide.
Summary : A stroke can cause lasting brain damage. People who survive a stroke need to relearn skills they lose because of the damage. Rehabilitation can help them relearn those skills. Stroke can cause five types of disabilities: - Paralysis or problems controlling movement - Pain and other problems with t...
Mutations in the ACADVL gene cause VLCAD deficiency. This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called very long-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. Fatty...
Behet disease is most common in Mediterranean countries, the Middle East, Japan, and other parts of Asia. However, it has been found in populations worldwide. The highest prevalence of Behet disease has been reported in Turkey, where the disorder affects up to 420 in 100,000 people. The disorder is much less common in...
Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin C is an antioxidant. It is important for your skin, bones, and connective tissue. It promotes healing and helps the body absorb iron. Vitamin C comes from fruits and vegetables. Good sources include citrus, red and green pep...