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A health care provider may treat kidney failure due to diabetic kidney disease with dialysis or a kidney transplant. In some cases, people with diabetic kidney disease receive kidney and pancreas transplants. In most cases, people with diabetic kidney disease start dialysis earlier than people with kid...
Adrenal function must be tested periodically in all patients with ALD. Treatment with adrenal hormones can be lifesaving. Symptomatic and supportive treatments for ALD include physical therapy, psychological support, and special education. Recent evidence suggests that a mixture of oleic acid and erucic acid, known as ...
The prognosis for individuals with VHL depends on then number, location, and complications of the tumors. Untreated, VHL may result in blindness and/or permanent brain damage. With early detection and treatment the prognosis is significantly improved. Death is usually caused by complications of brain tumors or kidney c...
The NINDS supports and conducts research on neurodegenerative disorders, such as tabes dorsalis, in an effort to find ways to prevent, treat, and, ultimately, cure these disorders.
Leri Weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity. Short stature is present from birth due to shortening of the long bones in the legs. Madelung deformity typically develops during mid-to-late childhood and may progress du...
The exact incidence of MELAS is unknown. It is one of the more common conditions in a group known as mitochondrial diseases. Together, mitochondrial diseases occur in about 1 in 4,000 people.
The respiratory failure and paralysis that occur with severe botulism may require a patient to be on a breathing machine (ventilator) for weeks or months, plus intensive medical and nursing care. The paralysis slowly improves. Botulism can be treated with an antitoxin which blocks the action of toxin circulating in the...
How might meningiomas be treated? The treatment varies depending on the location of the meningioma and the symptoms caused by the tumor. Careful observation is sometimes the best course of action for people with a meningioma. When treatment is necessary, surgery and radiation are the most common forms of treatment. Rad...
The prevalence of enlarged parietal foramina is estimated to be 1 in 15,000 to 50,000 individuals.
These resources address the diagnosis or management of chronic granulomatous disease: - American Academy of Allergy, Asthma, and Immunology - Gene Review: Gene Review: Chronic Granulomatous Disease - Genetic Testing Registry: Chronic granulomatous disease, X-linked - Genetic Testing Registry: Chronic granulomatous ...
Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroys brain cells. Krabbe disease, also known as globoid cell leukodystrophy, ischaracterized by the presence of globoid cells (cell...
How is Leber hereditary optic neuropathy (LHON) inherited? Leber hereditary optic neuropathy is an inherited condition that has a mitochondrial pattern of inheritance. The gene mutations that cause this condition are found in the mitochondrial DNA. Mitochondria are inherited from a person's mother, and as a result, onl...
Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses). The condition typically appears in infancy or early childhood with severe peripheral motor and sen...
5-alpha reductase deficiency is a rare condition; the exact incidence is unknown. Large families with affected members have been found in several countries, including the Dominican Republic, Papua New Guinea, Turkey, and Egypt.
How might factor XIII be treated? The amount of Factor XIII necessary for a normal response to trauma is only about 10 percent of that in the normal plasma. People with Factor XIII deficiency are generally given small infusions of fresh or frozen blood plasma (cryoprecipitates), or Factor XIII concentrates every three ...
Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. Affected individuals e...
The goals of psoriasis treatment are to change the course of the disease by interfering with the increased production of skin cells, and to remove scales and smooth rough skin.
There is no specific treatment for SD. For people with the mildest form, bed rest during the period of active movements is sufficient. When the severity of movements interferes with rest, sedative drugs, such as barbiturates or benzodiazepines, may be needed. Antiepileptic medications, such as valproic acid, are often ...
Wilson disease is a genetic disease that prevents the body from removing extra copper. The body needs a small amount of copper from food to stay healthy; however, too much copper is poisonous. Normally, the liver filters extra copper and releases it into bile. Bile is a fluid made by the liver that carries toxins and w...
Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive osseous heteroplasia, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually move...
What treatment is available for limbic encephalitis? Treatment will vary depending on whether the patient has a paraneoplastic form of limbic encephalitis or not. If the patient has a viral infectious form of the condition, an antiviral drug may be prescribed. When a tumor is found in association with a possible para...
These resources address the diagnosis or management of collagen VI-related myopathy: - Gene Review: Gene Review: Collagen Type VI-Related Disorders - Genetic Testing Registry: Bethlem myopathy - Genetic Testing Registry: Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy - Genetic Testing Re...
The Maat-Kievit-Brunner type of Ohdo syndrome results from mutations in the MED12 gene. This gene provides instructions for making a protein that helps regulate gene activity; it is thought to play an essential role in development both before and after birth. The MED12 gene mutations that cause this condition alter the...
Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotein (HDL) in the blood. HDL is a molecule that transports cholesterol and certain fats called phospholipids through the bloodstream from the body's tissues to the liver. Once in the liver, cholesterol and phospholipids are redist...
The inheritance pattern of Crohn disease is unclear because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having an affected family member is a significant risk factor for the disease.
How might eosinophilic fasciitis be treated? About 10-20% of people with eosinophilic fasciitis recover spontaneously without treatment. For those who do not, glucocorticoids (0.51 mg/kg/d), such as prednisone, are the mainstay therapy. Even with treatment, improvement in symptoms can take weeks or months. Glucocortic...
Prostate cancer is most common in older men. In the U.S., about one out of five men will be diagnosed with prostate cancer. Most men diagnosed with prostate cancer do not die of it. See the following PDQ summaries for more information about prostate cancer: - Prostate Cancer Screening - Prostate Cancer...
There is no cure for TSC, although treatment is available for a number of the symptoms. Rapamycin and related drugs are not yet approved by the U.S. Food and Drug Administration (FDA) for any purpose in individuals with TSC. The FDA has approved the drug everolimus (Afinitor) to treat subependymal giant cell astrocytom...
Hyperthyroidism is a disorder that occurs when the thyroid gland makes more thyroid hormone than the body needs. Hyperthyroidism is sometimes called thyrotoxicosis, the technical term for too much thyroid hormone in the blood. Thyroid hormones circulate throughout the body in the bloodstream and act on virtually every ...
These resources address the diagnosis or management of Robinow syndrome: - Gene Review: Gene Review: Autosomal Dominant Robinow Syndrome - Gene Review: Gene Review: ROR2-Related Robinow Syndrome - Genetic Testing Registry: Robinow syndrome - University of Chicago: Genetic Testing for Robinow Syndrome These resour...
These resources address the diagnosis or management of myasthenia gravis: - Cleveland Clinic - Genetic Testing Registry: Myasthenia gravis - Genetic Testing Registry: Myasthenia gravis with thymus hyperplasia - MedlinePlus Encyclopedia: Acetylcholine Receptor Antibody - MedlinePlus Encyclopedia: Tensilon Test Th...
These resources address the diagnosis or management of ovarian cancer: - Dana-Farber Cancer Institute - Familial Ovarian Cancer Registry - Fred Hutchinson Cancer Research Center - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer - Genetic Testing Registry: Hereditary breast and ovarian ca...
What are the signs and symptoms of Trigeminal neuralgia? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigeminal neuralgia. 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 Dic...
Sudden sensorineural deafness is a condition that is characterized by rapid, unexplained hearing loss. More specifically, affected people experience a reduction in hearing of greater than 30 decibels, which may occur all at once or over several days. In most cases, only one ear is affected. People with sudden sensorine...
Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Persons with drug-resistant seizures may be treated by surgical removal of epileptic brain tissue. Surgery may be performed on more serious cas...
If you are having surgery, your doctor will give you medicine called an anesthetic. Anesthetics reduce or prevent pain. There are three main types: - Local - numbs one small area of the body. You stay awake and alert. - Regional - blocks pain in an area of the body, such an arm or leg. A common type is epidura...
These resources address the diagnosis or management of succinic semialdehyde dehydrogenase deficiency: - Gene Review: Gene Review: Succinic Semialdehyde Dehydrogenase Deficiency - Genetic Testing Registry: Succinate-semialdehyde dehydrogenase deficiency - MedlinePlus Encyclopedia: Hyperactivity These resources fro...
Early-onset primary dystonia is among the most common forms of childhood dystonia. This disorder occurs most frequently in people of Ashkenazi (central and eastern European) Jewish heritage, affecting 1 in 3,000 to 9,000 people in this population. The condition is less common among people with other backgrounds; it is ...
Summary : Cosmetics are products you apply to your body to clean it, make it more attractive, or change the way it looks. They include - Hair dyes - Makeup - Perfumes - Skin-care creams Cosmetics that treat or prevent diseases are also drugs. Products such as dandruff shampoo, fluoride toot...
Are anaplastic astrocytomas inherited? Anaplastic astrocytomas are usually not inherited. These tumors typically occur sporadically, in people with no family history of astrocytomas. In most cases, the exact cause is unknown. Familial cases of isolated astrocytomas have been reported but are very rare. Astrocytomas can...
What are the signs and symptoms of Leber congenital amaurosis 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 16. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli...
The risk factors for depression are family history, life experiences, and environment. If you have depression, you may have experienced it when you were younger, and may have a family history of the illness. You may also be going through difficult life events, such as physical or psychological trauma, losing a loved on...
Nearly 2.7 million people have glaucoma, a leading cause of blindness in the United States. Although anyone can get glaucoma, some people are at higher risk. They include - African-Americans over age 40 - everyone over age 60, especially Hispanics/Latinos - people with a family history of glaucoma. African-Americans ...
Summary : If you are a teenager, this page is for you! It includes materials specifically for you - not for your parents - about health and safety for teens. There are quizzes, games and lots of cool web sites for you to explore. Have fun!
The most common symptoms of gas are: - Burping. Burping once in awhile, especially during and after meals, is normal. If you burp very often, you may be swallowing too much air. Some people with digestive problems swallow air on purpose and burp because they believe it will help them feel better. - Pa...
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.
Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing ...
How is multiple familial trichoepithelioma inherited? Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance. This means that one copy of the altered gene in each cell increases the risk that a person will develop the condition. However, a second, non-inherited mutation i...
These resources address the diagnosis or management of Dubin-Johnson syndrome: - Genetic Testing Registry: Dubin-Johnson syndrome - MedlinePlus Encyclopedia: Bilirubin - MedlinePlus Encyclopedia: Dubin-Johnson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various...
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some people who have the altered gene never develop the condition, a situation known as reduced penetrance.
Mntriers disease causes the ridges along the inside of the stomach wallcalled rugaeto enlarge, forming giant folds in the stomach lining. The rugae enlarge because of an overgrowth of mucous cells in the stomach wall. In a normal stomach, mucous cells in the rugae release protein-containing mucus. The ...
Certain factors affect treatment options and prognosis (chance of recovery). The prognosis (chance of recovery) and treatment options depend on the following: - The type of ovarian cancer and how much cancer there is. - The stage and grade of the cancer. - Whether the patient has extra fluid in the abdome...
People with anemia caused by iron, vitamin B12, or folic acid deficiencies are usually advised to include sources of these nutrients in their diets. Dietary sources of iron include - beans - breakfast cereals - chicken - enriched bread - spinach - turkey Dietary s...
Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Peop...
Treatment for CCHF is primarily supportive. Care should include careful attention to fluid balance and correction of electrolyte abnormalities, oxygenation and hemodynamic support, and appropriate treatment of secondary infections. The virus is sensitive in vitro to the antiviral drug ribavirin. It has been used in the...
Urachal cancer is a rare type of bladder cancer, making up less than 1% of all bladder cancers. Only about 350 cases have been described in the medical literature to date. The urachus is a primitive structure which before birth connected the bellybutton and the bladder. This connection normally disappears before birth,...
Crohn's disease is a disease that causes inflammation,* or swelling, and irritation of any part of the digestive tractalso called the gastrointestinal (GI) tract. The part most commonly affected is the end part of the small intestine, called the ileum. *See the Pronunciation Guide for tips on how to sa...
Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded. Signs and symptoms may be debilitating, and they can begin mildly and gradually, or occur sud...
Conjunctivitis is the medical name for pink eye. It involves inflammation of the outer layer of the eye and inside of the eyelid. It can cause swelling, itching, burning, discharge, and redness. Causes include - Bacterial or viral infection - Allergies - Substances that cause irritation - Contact lens ...
The prevalence of CAV3-related distal myopathy is unknown. Only a few affected individuals have been described in the medical literature.
Dowling-Degos disease appears to be a rare condition, although its prevalence is unknown.
What treatment is available for cleidocranial dysplasia? Because there is no specific treatment for cleidocranial dysplasia, treatment is based on an individual's symptoms. Affected individuals typically require dental care due to various teeth abnormalities. People with cleidocranial dysplasia may receive supplements ...
These resources address the diagnosis or management of von Hippel-Lindau syndrome: - Brigham and Women's Hospital - Gene Review: Gene Review: Von Hippel-Lindau Syndrome - Genetic Testing Registry: Von Hippel-Lindau syndrome - Genomics Education Programme (UK) - MD Anderson Cancer Center - MedlinePlus Encyclopedia...
Acquired pure red cell aplasia (PRCA) is a bone marrow disorder characterized by a reduction of red blood cells (erythrocytes) produced by the bone marrow. Signs and symptoms may include fatigue, lethargy, and/or abnormal paleness of the skin (pallor) due to the anemia the caused by the disorder. In most cases, the cau...
These resources address the diagnosis or management of beta-mannosidosis: - Genetic Testing Registry: Beta-D-mannosidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Co...
Until recently, the common type of diabetes in children and teens was type 1. It was called juvenile diabetes. With Type 1 diabetes, the pancreas does not make insulin. Insulin is a hormone that helps glucose,or sugar, get into your cells to give them energy. Without insulin, too much sugar stays in the blood. But n...
Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (the pigmented layer of the retina). Over time, drusen may grow and come together, creating a hone...
Is McCune Albright syndrome inherited? McCune Albright syndrome (MAS) is not inherited. It is caused by a random change (mutation) in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenom...
These resources address the diagnosis or management of harlequin ichthyosis: - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 4B These resources from MedlinePlus offer information about the diagnosis and management of various...
Mutations in the RHO, GNAT1, or PDE6B gene cause autosomal dominant congenital stationary night blindness. The proteins produced from these genes are necessary for normal vision, particularly in low-light conditions. These proteins are found in specialized light receptor cells in the retina called rods. Rods transmit v...
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.
There is no specific treatment for Sandhoff disease. Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may initially control seizures.
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.
What treatments might be available for central core disease? Treatments for central core disease (CCD) depend on the symptoms experienced by each affected individual. When someone is first diagnosed with this condition, a physical examination is done to assess the extent and severity of muscle weakness, and physical t...
The symptoms of acute urinary retention may include the following and require immediate medical attention: - inability to urinate - painful, urgent need to urinate - pain or discomfort in the lower abdomen - bloating of the lower abdomen The symptoms of chronic urinary retention may...
How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited? Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene responsible for the condition is suffic...
What are the signs and symptoms of Ausems Wittebol-Post Hennekam syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ausems Wittebol-Post Hennekam syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You...
With stroke, treatment depends on the stage of the disease. There are three treatment stages for stroke: prevention, therapy immediately after stroke, and rehabilitation after stroke. Stroke treatments include medications, surgery, and rehabilitation.
What causes Moyamoya disease? In some families, risk for moyamoya disease is inherited. Changes in the RNF213 gene have been associated with the condition. There are other gene changes involved in moyamoya disease, that remain to be found. Factors such as infection or inflammation, likely also play a role in the condit...
Mutations in the FXN gene cause Friedreich ataxia. This gene provides instructions for making a protein called frataxin. Although its role is not fully understood, frataxin appears to be important for the normal function of mitochondria, the energy-producing centers within cells. One region of the FXN gene contains a s...
These resources address the diagnosis or management of Guillain-Barr syndrome: - Genetic Testing Registry: Guillain-Barre syndrome, familial - National Institute of Neurological Disorders and Stroke: Guillain-Barr Syndrome Fact Sheet These resources from MedlinePlus offer information about the diagnosis and managem...
These resources address the diagnosis or management of Alstrm syndrome: - Gene Review: Gene Review: Alstrom Syndrome - Genetic Testing Registry: Alstrom syndrome - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Alstrm syndrome These resources from MedlinePlus offer information about th...
Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodst...
Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect African Americans.
None of the currently available medications enables people with narcolepsy to consistently maintain a fully normal state of alertness. But EDS and cataplexy, the most disabling symptoms of the disorder, can be controlled in most patients with drug treatment. Often the treatment regimen is modified as symptoms change. W...
Polyglucosan body disease affects the nervous system. Individuals with this condition usually begin to show signs of the disorder after the age of 40. Signs and symptoms include trouble walking due to decreased sensation in the legs (peripheral neuropathy) and muscle weakness and stiffness (spasticity). Individuals may...
Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce en...
Sotos syndrome is reported to occur in 1 in 10,000 to 14,000 newborns. Because many of the features of Sotos syndrome can be attributed to other conditions, many cases of this disorder are likely not properly diagnosed, so the true incidence may be closer to 1 in 5,000.
The bronchi are two tubes that branch off the trachea, or windpipe. The bronchi carry air to your lungs. The most common problem with the bronchi is bronchitis, an inflammation of the tubes. Bronchitis can be acute or chronic. Other problems include - Bronchiectasis, a condition in which damage to the airways ...
Hemochromatosis is a condition in which too much iron builds up in the body (iron overload). Accumulation of iron in the organs is toxic and can result in organ failure. While many organs can be affected, it may especially affect the liver, heart, and pancreas. Symptoms of hemochromatosis tend to develop gradually and ...
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.
Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In spina bifida, the fetal spinal column doesn't close completely. There...
Most people do not have any symptoms until the hepatitis C virus causes liver damage, which can take 10 or more years to happen. Others may have one or more of the following symptoms: - feeling tired - muscle soreness - upset stomach - stomach pain - fever - loss of appetite - diarrhea - dark-ye...
Medications may ease certain symptoms, such as pain. Surgery is the only treatment available to correct functional disturbances or halt the progression of damage to the central nervous system. More than one surgery may be needed to treat the condition. Some CMs have no noticeable symptoms and do not interfere with the ...
This condition occurs in about 1 in 2,500 newborn girls worldwide, but it is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).
Imerslund-Grsbeck syndrome is a rare condition that was first described in Finland and Norway; in these regions, the condition is estimated to affect 1 in 200,000 people. The condition has also been reported in other countries worldwide; its prevalence in these countries is unknown.
The NINDS conducts and supports research on injuries to the nervous system such as brachial plexus injuries. Much of this research is aimed at finding ways to prevent and treat these disorders.
Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. When these genes don't work, it affects how y...
Subcortical band heterotopia, also known as double cortex syndrome, is a condition of abnormal brain development that is present from birth. This condition which primarily affects females, occurs when neurons migrate to an area of the brain where they are not supposed to be (heterotopia), and form abnormal areas that ...