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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 child's doctor if you think your child may be at risk. Possible risk factors for brain stem glioma...
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The thickness of the tumor and where it is in the body. - How quickly the cancer cells are dividing. - Whether there was bleeding or ulceration o...
How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomograph...
What causes Sjogren syndrome? Sjogren syndrome likely results from a combination of genetic and environmental factors (multifactorial). Several different genes appear to affect the risk of developing the condition, however, specific genes have yet to be confirmed. Simply having one of these genes does not cause a perso...
Bart-Pumphrey syndrome is a rare disorder; its exact prevalence is unknown. Only a few affected families and individual cases have been identified.
Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.
Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning. Infants with aspartylglucosaminuria appear healthy at birth, and development is typically normal throughout early childhood. The first sign of this condition, evident around the age of 2 or 3, is usually delayed speech. Mild...
How is Parsonage Turner syndrome diagnosed? A diagnosis of Parsonage Turner syndrome (PTS) is often suspected based on the presence of characteristic signs and symptoms. Specialized tests may be recommended to further investigate the shoulder pain and/or muscle weakness and to rule out other conditions that can cause s...
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct and support RLS research in laboratories at the NIH and at major medical institutions across the country. The goal of this research is to increase scientific understanding of RLS, ...
Is genetic testing available for pyruvate kinase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose an affected person or other family members and to aid in decisions regarding medical care or reproductive issues. We re...
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.
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, which may include severe itching, jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood...
Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microce...
Recovery depends on how long the brain has been deprived of oxygen and how much brain damage has occurred, although carbon monoxide poisoning can cause brain damage days to weeks after the event. Most people who make a full recovery have only been briefly unconscious. The longer someone is unconscious, the higher the c...
Mutations in the ALDOB gene cause hereditary fructose intolerance. The ALDOB gene provides instructions for making the aldolase B enzyme. This enzyme is found primarily in the liver and is involved in the breakdown (metabolism) of fructose so this sugar can be used as energy. Aldolase B is responsible for the second st...
Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes. Bile duct cancer is ...
Medicare Part D helps pay for medications that a doctor may prescribe. This coverage may help lower prescription drug costs. Medicare drug plans are run by insurance companies and other private companies approved by Medicare. A person who joins Original Medicare and who wants prescription drug coverage will need to cho...
Some individuals recover from an initial attack and never have another. Others will experience clusters of attacks followed by periods of short or long remission. Individuals may lose weight if they fear that chewing, drinking, or eating will cause an attack.
CHOPS 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. All known cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early emb...
Summary : What kind of medical care would you want if you were too ill or hurt to express your wishes? Advance directives are legal documents that allow you to spell out your decisions about end-of-life care ahead of time. They give you a way to tell your wishes to family, friends, and health care professionals and to ...
Is genetic testing available for abetalipoproteinemia? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for abetalipoproteinemia. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test ...
The prevalence of this disorder is estimated to be 1 in 7,500 to 20,000 people.
Tests that measure the amount of creatinine in the blood will show whether a persons kidneys are removing wastes efficiently. Having too much creatinine in the blood is a sign that a person has kidney damage. The doctor can use the creatinine measurement to estimate how efficiently the kidneys are filtering the blood. ...
Miller syndrome is a rare disorder; it is estimated to affect fewer than 1 in 1 million newborns. At least 30 cases have been reported in the medical literature.
Cerebral cavernous malformations (CCMs) are vascular lesions comprised of clusters of tightly packed, abnormally thin-walled small blood vessels (capillaries) that displace normal neurological tissue in the brain or spinal cord. The vessels are filled with slow-moving or stagnant blood that is usually clotted or in a s...
Until diarrhea subsides, avoiding caffeine and foods that are greasy, high in fiber, or sweet may lessen symptoms. These foods can aggravate diarrhea. Some people also have problems digesting lactose during or after a bout of diarrhea. Yogurt, which has less lactose than milk, is often better tolerated. Yogurt with act...
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.
Radiation therapy is a cancer treatment that uses high-energy x-rays to destroy cancer cells. Some patients receive radiation treatment that is directed at the whole body.
Glycogen storage disease type 6 is a genetic disease in which the liver cannot process sugar properly. Symptoms usually begin in infancy or childhood and include low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), or an increase in the amount of lactic acid in the blood (lactic acidosis) particularly whe...
This condition has an X-linked dominant pattern of inheritance. 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. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. ...
How is familial exudative vitreoretinopathy inherited? FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheri...
These resources address the diagnosis or management of megalencephaly-capillary malformation syndrome: - Contact a Family - Gene Review: Gene Review: PIK3CA-Related Segmental Overgrowth - Genetic Testing Registry: Megalencephaly cutis marmorata telangiectatica congenita - M-CM Network: How is M-CM Diagnosed? Thes...
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...
What are the signs and symptoms of Cataract, autosomal recessive congenital 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, autosomal recessive congenital 2. If the information is available, the table below includes how often the symptom is seen in people with this condit...
How is Peters plus syndrome inherited? Peters plus syndrome is inherited in an autosomal recessive fashion, which means that an individual needs to inherit two disease-causing mutations of the B3GALTL gene-one from each parent-in order to have symptoms of the condition. Parents of individuals with the condition typical...
Quitlines are free, anonymous telephone counseling services. These programs have helped more than 3 million smokers. When you call a quitline, you talk to a trained counselor who can help you develop a strategy for quitting or help you stay on track. The counselor can provide material that could improve your chances of...
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports neurological research aimed at understanding why diseases develop...
Wet AMD can be treated with laser surgery, photodynamic therapy, and drugs that are injected into the eye. None of these treatments is a cure for wet AMD. The disease and loss of vision may progress despite treatment.
Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immun...
The prognosis is poor for babies with SMA Type I. Most die within the first two years. For children with SMA Type II, the prognosis for life expectancy or for independent standing or walking roughly correlates with how old they are when they first begin to experience symptoms - older children tend to have less severe s...
Some people who have cardiomyopathy never have signs or symptoms. Others don't have signs or symptoms in the early stages of the disease. As cardiomyopathy worsens and the heart weakens, signs and symptoms of heart failure usually occur. These signs and symptoms include: Shortness of b...
There is no known cure for Sjgren's syndrome nor is there a specific treatment to restore gland secretion. Treatment is generally symptomatic and supportive. Moisture replacement therapies may ease the symptoms of dryness. Nonsteroidal anti-inflammatory drugs may be used to treat musculoskeletal symptoms. For individua...
Repeatedly breathing in foreign substances can cause hypersensitivity pneumonitis (HP). Examples of these substances include molds, dusts, and chemicals. (Mold often is the cause of HP.) These substances also are known as antigens. Over time, your lungs can become sensitive to antigens. If this happens...
How is Cohen syndrome diagnosed? The diagnosis of Cohen syndrome is based on the symptoms present in the patient, but because the symptoms vary greatly from person to person, no consensus diagnostic criteria exist. Genetic testing is available for COH1, the only gene known to be associated with Cohen syndrome. However,...
Pituitary adenomas, including sporadic tumors, are relatively common; they are identified in an estimated 1 in 1,000 people. FIPA, though, is quite rare, accounting for approximately 2 percent of pituitary adenomas. More than 200 families with FIPA have been described in the medical literature.
Northern epilepsy is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 5 and 10 years and may include recurrent seizures, mild intellectual disability, and motor abnormalities (i.e. problems with coordination and balance). Some affected people may also ...
What are the signs and symptoms of human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) generally causes no signs or symptoms. Although HTLV-2 has not been definitively linked with any specific health problems, scientists suspect that some affected people may later develop neurological prob...
How is congenital sucrase-isomaltase deficiency (CSID) diagnosed? CSID can be diagnosed through clinical evaluation, detailed patient history, and tolerance lab tests. Blood tests can be done to look for a flat serum glucose curve after patients are given a dose of sucrose. In addition, blood and urine samples may test...
Cicatricial pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. Other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. The condition usually begins in late adulthood (e.g. 50's or 60's), affects more women than me...
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.
The cause of benign prostatic hyperplasia is not well understood; however, it occurs mainly in older men. Benign prostatic hyperplasia does not develop in men whose testicles were removed before puberty. For this reason, some researchers believe factors related to aging and the testicles may cause benign prostatic hype...
Intrahepatic cholestasis of pregnancy is estimated to affect 1 percent of women of Northern European ancestry. The condition is more common in certain populations, such as women of Araucanian Indian ancestry in Chile or women of Scandinavian ancestry. This condition is found less frequently in other populations.
People cannot prevent the weakness in the abdominal wall that causes indirect inguinal hernias. However, people may be able to prevent direct inguinal hernias by maintaining a healthy weight and not smoking. People can keep inguinal hernias from getting worse or keep inguinal hernias from recurring aft...
Viral gastroenteritis is inflammation of the lining of the stomach, small intestine, and large intestine. Several different viruses can cause viral gastroenteritis, which is highly contagious and extremely common. Viral gastroenteritis causes millions of cases of diarrhea each year. Anyone can get vira...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered LGI1 gene in each cell is sufficient to raise the risk of developing epilepsy. About two-thirds of people who inherit a mutation in this gene will develop seizures. In most cases, an affected person has one affected parent...
Summary : You can't remove all the safety hazards from your life, but you can reduce them. To avoid many major hazards and prepare for emergencies - Keep emergency phone numbers by your telephones - Make a first aid kit for your home - Make a family emergency plan - Install and maintain smoke alarms ...
How might Charcot-Marie-Tooth disease type 2F be treated? Treatment for Charcot-Marie-Tooth disease type 2 mainly focuses on the specific symptoms present. Affected individuals are often managed by a team of various specialists that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational...
Mutations in the AMELX, ENAM, MMP20, and FAM83H genes can cause amelogenesis imperfecta. The AMELX, ENAM, and MMP20 genes provide instructions for making proteins that are essential for normal tooth development. Most of these proteins are involved in the formation of enamel, which is the hard, calcium-rich material tha...
These resources address the diagnosis or management of Hennekam syndrome: - Great Ormond Street Hospital for Children (UK): Primary Intestinal Lymphangiectasia Information - Johns Hopkins Medicine: Lymphedema Management - VascularWeb: Lymphedema These resources from MedlinePlus offer information about the diagnosi...
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...
Langerhans cell histiocytosis (LCH) is a disorder that primarily affects children, but is also found in adults of all ages. People with LCH produce too many Langerhans cells or histiocytes, a form of white blood cell found in healthy people that is supposed to protect the body from infection. In people with LCH, these ...
Primary Thrombocythemia Thrombocythemia isn't common. The exact number of people who have the condition isn't known. Some estimates suggest that 24 out of every 100,000 people have primary thrombocythemia. Primary thrombocythemia is more common in people aged 50 to 70, but it can occur...
Inclusion body myositis (IBM) is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic, progressive muscle inflammation accompanied by muscle weakness. The onset of muscle weakness in IBM is generally gradual (over months or years) and affects both proximal (close to...
Platelets are little pieces of blood cells. Platelets help wounds heal and prevent bleeding by forming blood clots. Your bone marrow makes platelets. Problems can result from having too few or too many platelets, or from platelets that do not work properly. If your blood has a low number of platelets, it is called...
Marinesco-Sjgren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjgren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Affected individuals also have muscle weakness (myopathy) and di...
MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. S...
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical re...
Nicolaides-Baraitser syndrome is likely a rare condition; approximately 75 cases have been reported in the scientific literature.
Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency. People with la...
Inherited factor XIII deficiency affects 1 to 3 per million people worldwide. Researchers suspect that mild factor XIII deficiency, including the acquired form of the disorder, is underdiagnosed because many affected people never have a major episode of abnormal bleeding that would lead to a diagnosis.
Keeping your cholesterol levels healthy can help prevent coronary artery disease. Your goal for LDL, or "bad," cholesterol depends on how many other risk factors you have. Here are recommended LDL cholesterol goals. - If you don't have coronary heart disease or diabetes and have one or no risk factors, your LDL goal is...
How might hypomelination with atrophy of basal ganglia and cerebellum (H-ABC) be treated? Unfortunately, there is no known cure for hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). However, there is a case report of one patient's movement difficulties improving somewhat after he took the medicatio...
Ulcerative colitis is most common in North America and Western Europe; however the prevalence is increasing in other regions. In North America, ulcerative colitis affects approximately 40 to 240 in 100,000 people. It is estimated that more than 750,000 North Americans are affected by this disorder. Ulcerative colitis i...
The AREDS formulation is a combination of antioxidants and zinc that is named for a study conducted by The National Eye Institute called the Age-Related Eye Disease Study, or AREDS. This study found that taking a specific high-dose formulation of antioxidants and zinc significantly reduced the risk of advanced AMD and ...
Mutations in the HEXB gene cause Sandhoff disease. The HEXB gene provides instructions for making a protein that is part of two critical enzymes in the nervous system, beta-hexosaminidase A and beta-hexosaminidase B. These enzymes are located in lysosomes, which are structures in cells that break down toxic substances ...
This condition is inherited in an X-linked 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), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes...
The prevalence of activated PI3K-delta syndrome is unknown.
In heart failure, the heart cannot pump enough blood through the body. Heart failure develops over time as the pumping action of the heart gets weaker. Heart failure does not mean that the heart has stopped working or is about to stop working. When the heart is weakened by heart failure, blood and fluid can back up int...
Signs and symptoms depend on the type of heart block you have. First-degree heart block may not cause any symptoms. Signs and symptoms of second- and third-degree heart block include: Fainting Dizziness or light-headedness Fatigue (tiredness) ...
The NINDS supports research on painful neurological disorders such as Behcet's disease. The National Human Genome Research Institute, another Institute of the National Institutes of Health, conducts research into the genomic basis of Behcet's disease. This research is aimed at discovering the causes of these disorders ...
- A kidney stone is a solid piece of material that forms in a kidney when some substances that are normally found in the urine become highly concentrated. - Kidney stones occur in infants, children, and teenagers from all races and ethnicities. - Kidney stones in children are diagnosed using a combination of urine, b...
Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. Features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened li...
Your carotid arteries are two large blood vessels in your neck. They supply your brain with blood. If you have carotid artery disease, the arteries become narrow, usually because of atherosclerosis. This is the buildup of cholesterol and other material in an artery. If a blood clot sticks in the narrowed arteries, bloo...
Primrose syndrome is characterized by severe learning disabilities, bony ear cartilage, a hard bony growth in the roof of the mouth, cystic changes on the top of the upper arm and leg bones, cataracts, hearing loss, adult-onset progressive ataxia and nervous system disease, and brain calcification. The cause of the con...
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. In most cases, an affected person has one parent with the condition.
Hand-foot-genital syndrome is a rare condition that affects the development of the hands and feet, the urinary tract, and the reproductive system. People with this condition have abnormally short thumbs and first (big) toes, small fifth fingers that curve inward (clinodactyly), short feet, and fusion or delayed hardeni...
Researchers do not know the exact cause of celiac disease. Celiac disease sometimes runs in families. In 50 percent of people who have celiac disease, a family member, when screened, also has the disease.1 A person's chances of developing celiac disease increase when his or her genestraits passed from ...
What are the signs and symptoms of Idiopathic thrombocytopenic purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic thrombocytopenic purpura. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u...
Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. Often, the first noticeable sign of MR...
How might lipoid proteinosis of Urbach and Wiethe be treated? There is currently no cure for lipoid proteinosis (LP) of Urbach and Wiethe. Treatment is based on the signs and symptoms present in each person. The skin abnormalities found in people affected by LP may be treated with certain medications, including cortico...
Asperger syndrome (AS) is an autism spectrum disorder, a type of neurological condition characterized by impaired language and communication skills, and repetitive or restrictive thought and behavior patterns. Unlike many people with autism, those with AS retain their early language skills. Features of AS include an ob...
Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition in...
PPRD has been estimated to occur in approximately 1 per million people in the United Kingdom. The condition is thought to be more common in Turkey and the Middle East, although its prevalence in these regions is unknown. The condition in all regions is likely underdiagnosed because it is often misdiagnosed as juvenile ...
Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. Forty to 50 percent of people with acute myeloid leukemia have CN-AML.
AMD is most common in older people, but it can occur during middle age. The risk increases with age. Other risk factors include smoking, obesity, white race, family history of AMD, and female gender.
Narrowed blood vessels leave a smaller opening for blood to flow through. Having narrowed blood vessels is like turning on a garden hose and holding your thumb over the opening. The smaller opening makes the water shoot out with more pressure. In the same way, narrowed blood vessels lead to high blood pressure. Other f...
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.
INAD is a progressive disease. Once symptoms begin, they will worsen over time. Generally, a babys development starts to slow down between the ages of 6 months to 3 years. The first symptoms may be slowing of motor and mental development, followed by loss or regression of previously acquired skills. Rapid, wobbly eye m...
Achondrogenesis type 1A and type 1B both have an autosomal recessive pattern of inheritance, which means both copies of the TRIP11 or SLC26A2 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and...
Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg. The signs and symptoms of this condition typically appear after age 35. The first sign is usually weakness and wasting (atrophy) of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-do...