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How is glucose-6-phosphate dehydrogenase (G6PD) deficiency inherited? G6PD deficiency is inherited in an X-linked recessive manner. 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 changed (mutated) copy of the gene in each cell is enough to cause the condition because they don't have another X chromosome with a normal copy of the gene. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two mutated copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Fathers cannot pass X-linked traits to their sons.
What are the signs and symptoms of Idiopathic neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic neutropenia. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute myeloid leukemia 7.5% Autosomal dominant inheritance - Neutropenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudoachondroplasia is caused by mutations in the COMP gene. This condition is inherited in an autosomal dominant pattern.
Insulin is a hormone made in the pancreas, an organ located behind the stomach. The pancreas contains clusters of cells called islets. Beta cells within the islets make insulin and release it into the blood. Insulin plays a major role in metabolismthe way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose. Glucose is a form of sugar that enters the bloodstream. With the help of insulin, cells throughout the body absorb glucose and use it for energy. Insulin's Role in Blood Glucose Control When blood glucose levels rise after a meal, the pancreas releases insulin into the blood. Insulin and glucose then travel in the blood to cells throughout the body. - Insulin helps muscle, fat, and liver cells absorb glucose from the bloodstream, lowering blood glucose levels. - Insulin stimulates the liver and muscle tissue to store excess glucose. The stored form of glucose is called glycogen. - Insulin also lowers blood glucose levels by reducing glucose production in the liver. In a healthy person, these functions allow blood glucose and insulin levels to remain in the normal range.
The colon and rectum are part of the large intestine. Colorectal cancer occurs when tumors form in the lining of the large intestine. It is common in both men and women. The risk of developing colorectal cancer rises after age 50. You're also more likely to get it if you have colorectal polyps, a family history of colorectal cancer, ulcerative colitis or Crohn's disease, eat a diet high in fat, or smoke. Symptoms of colorectal cancer include - Diarrhea or constipation - A feeling that your bowel does not empty completely - Blood (either bright red or very dark) in your stool - Stools that are narrower than usual - Frequent gas pains or cramps, or feeling full or bloated - Weight loss with no known reason - Fatigue - Nausea or vomiting Because you may not have symptoms at first, it's important to have screening tests. Everyone over 50 should get screened. Tests include colonoscopy and tests for blood in the stool. Treatments for colorectal cancer include surgery, chemotherapy, radiation, or a combination. Surgery can usually cure it when it is found early. NIH: National Cancer Institute
If you think you or your child may have toxocariasis, you should see your health care provider to discuss the possibility of infection and, if necessary, to be examined. Toxocariasis can be difficult to diagnose because the symptoms of toxocariasis are similar to the symptoms of other infections. A blood test is available that looks for evidence of infection with Toxocara larvae. In addition to the blood test, diagnosis of toxocariasis includes identifying the presence of typical clinical signs of VT or OT and a history of exposure to cats and dogs.
A healthy diet is important in all stages of cirrhosis because malnutrition is common in people with this disease. Malnutrition is a condition that occurs when the body does not get enough nutrients. Cirrhosis may lead to malnutrition because it can cause - people to eat less because of symptoms such as loss of appetite - changes in metabolism - reduced absorption of vitamins and minerals Health care providers can recommend a meal plan that is well balanced and provides enough calories and protein. If ascites develops, a health care provider or dietitian may recommend a sodium-restricted diet. To improve nutrition, the health care provider may prescribe a liquid supplement. A person may take the liquid by mouth or through a nasogastric tubea tiny tube inserted through the nose and throat that reaches into the stomach. A person with cirrhosis should not eat raw shellfish, which can contain a bacterium that causes serious infection. Cirrhosis affects the immune system, making people with cirrhosis more likely than healthy people to develop an infection after eating shellfish that contain this bacterium. A health care provider may recommend calcium and vitamin D supplements to help prevent osteoporosis.
What causes medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency? Mutations in the ACADM gene cause medium-chain acyl-coenzyme A dehydrogenase deficiency. Mutations in the ACADM gene lead to inadequate levels of an enzyme called medium-chain acyl-coenzyme A dehydrogenase. Without sufficient amounts of this enzyme, medium-chain fatty acids from food and fats stored in the body are not metabolized properly. As a result, these fats are not converted to energy, which can lead to characteristic signs and symptoms of this disorder such as lethargy and low blood sugar. Medium-chain fatty acids or partially metabolized fatty acids may accumulate in tissues and can damage the liver and brain, causing serious complications.
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 incidence of dominant multiple epiphyseal dysplasia is estimated to be at least 1 in 10,000 newborns. The incidence of recessive multiple epiphyseal dysplasia is unknown. Both forms of this disorder may actually be more common because some people with mild symptoms are never diagnosed.
To prevent kidney stones, you need to know what caused your kidney stone. Your doctor may ask you to try to catch the kidney stone as it passes in your urine. The kidney stone can then be sent to a lab to find out what type of stone it is. If you have treatment in the hospital and the doctor removes the stone, it will also be sent to a lab for testing. Your doctor may ask you to collect your urine for 24 hours after the stone has passed or been removed. Your doctor can then measure how much urine you produce in a day and mineral levels in the urine. You are more likely to form stones if you dont make enough urine each day or have a problem with mineral levels. Once you know what type of kidney stone you had, you can make changes in your eating, diet, and nutrition and take medicines to prevent future kidney stones.
The doctor will examine the anus and rectum to determine whether a person has hemorrhoids. Hemorrhoid symptoms are similar to the symptoms of other anorectal problems, such as fissures, abscesses, warts, and polyps. The doctor will perform a physical exam to look for visible hemorrhoids. A digital rectal exam with a gloved, lubricated finger and an anoscopea hollow, lighted tubemay be performed to view the rectum. A thorough evaluation and proper diagnosis by a doctor is important any time a person notices bleeding from the rectum or blood in the stool. Bleeding may be a symptom of other digestive diseases, including colorectal cancer. Additional exams may be done to rule out other causes of bleeding, especially in people age 40 or older: - Colonoscopy. A flexible, lighted tube called a colonoscope is inserted through the anus, the rectum, and the upper part of the large intestine, called the colon. The colonoscope transmits images of the inside of the rectum and the entire colon. - Sigmoidoscopy. This procedure is similar to colonoscopy, but it uses a shorter tube called a sigmoidoscope and transmits images of the rectum and the sigmoid colon, the lower portion of the colon that empties into the rectum. - Barium enema x ray. A contrast material called barium is inserted into the colon to make the colon more visible in x ray pictures.
Boomerang dysplasia is a rare disorder; its exact prevalence is unknown. Approximately 10 affected individuals have been identified.
How is Stargardt disease inherited? Stargardt disease is most commonly inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier A person with autosomal recessive Stargardt disease will always pass one mutated copy of the gene to each of his/her children. In other words, each of his/her children will at least be a carrier. A child of an affected person can be affected if the other parent is also affected or is a carrier. In rare cases, Stargardt disease may be inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause features of the condition. An affected person typically inherits the mutated gene from an affected parent. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.
The National Institute of Neurological Disorders and Stroke (NINDS) conducts CMT research in its laboratories at the National Institutes of Health (NIH) and also supports CMT research through grants to major medical institutions across the country. Ongoing research includes efforts to identify more of the mutant genes and proteins that cause the various disease subtypes. This research includes studies in the laboratory to discover the mechanisms of nerve degeneration and muscle atrophy, and clinical studies to find therapies to slow down or even reverse nerve degeneration and muscle atrophy.
What treatment is available for geographic tongue? Because geographic tongue is a benign (harmless) condition and does not typically cause symptoms, treatment is usually unnecessary. Even those patients who experience sensitivity to hot or spicy foods, generally do not require treatment. With severe symptoms, topical corticosteroids, zinc supplements, and topical anesthetic rinses seem to reduce the discomfort in some patients.
The onset of CCHF is sudden, with initial signs and symptoms including headache, high fever, back pain, joint pain, stomach pain, and vomiting. Red eyes, a flushed face, a red throat, and petechiae (red spots) on the palate are common. Symptoms may also include jaundice, and in severe cases, changes in mood and sensory perception. As the illness progresses, large areas of severe bruising, severe nosebleeds, and uncontrolled bleeding at injection sites can be seen, beginning on about the fourth day of illness and lasting for about two weeks. In documented outbreaks of CCHF, fatality rates in hospitalized patients have ranged from 9% to as high as 50%. The long-term effects of CCHF infection have not been studied well enough in survivors to determine whether or not specific complications exist. However, recovery is slow.
In most people with Ollier disease, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene mutations cause the enzyme produced from the respective gene to take on a new, abnormal function. Although these mutations have been found in some cells of enchondromas in people with Ollier disease, the relationship between the mutations and the signs and symptoms of the disorder is not well understood. Mutations in other genes may also account for some cases of Ollier disease.
What are the signs and symptoms of Rheumatoid nodulosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Rheumatoid nodulosis. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Subcutaneous nodule - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
The most common cause of peripheral arterydisease (P.A.D.) is atherosclerosis. Atherosclerosis is a disease in which plaque builds up in your arteries. The exact cause of atherosclerosis isn't known. The disease may start if certain factors damage the inner layers of the arteries. These factors include: Smoking High amounts of certain fats and cholesterol in the blood High blood pressure High amounts of sugar in the blood due to insulin resistance or diabetes When damage occurs, your body starts a healing process. The healing may cause plaque to build up where the arteries are damaged. Eventually, a section of plaque can rupture (break open), causing a blood clot to form at the site. The buildup of plaque or blood clots can severely narrow or block the arteries and limit the flow of oxygen-rich blood to your body.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - The age of the patient. - The subtype of AML. - Whether the patient received chemotherapy in the past to treat a different cancer. - Whether there is a history of a blood disorder such as myelodysplastic syndrome. - Whether the cancer has spread to the central nervous system. - Whether the cancer has been treated before or recurred (come back). It is important that acute leukemia be treated right away.
Vohwinkel syndrome is an inherited condition that affects the skin. People with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. A "variant form" of Vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss. Classic Vohwinkel syndrome is caused by changes (mutations) in the GJB2 gene and the variant form is caused by mutations in the LOR gene. Both are inherited in an autosomal dominant manner. Although there is currently no cure for the condition, treatments are available to alleviate symptoms.
There's no way around it. Smoking is bad for your health. Smoking harms nearly every organ of the body. Cigarette smoking causes 87 percent of lung cancer deaths. It is also responsible for many other cancers and health problems. These include lung disease, heart and blood vessel disease, stroke and cataracts. Women who smoke have a greater chance of certain pregnancy problems or having a baby die from sudden infant death syndrome (SIDS). Your smoke is also bad for other people - they breathe in your smoke secondhand and can get many of the same problems as smokers do. E-cigarettes often look like cigarettes, but they work differently. They are battery-operated smoking devices. Not much is known about the health risks of using them. Quitting smoking can reduce your risk of health problems. The earlier you quit, the greater the benefit. NIH: National Cancer Institute
What are the signs and symptoms of Globozoospermia? The Human Phenotype Ontology provides the following list of signs and symptoms for Globozoospermia. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Globozoospermia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
No medical treatments exist that can cure inherited peripheral neuropathy. However, there are therapies for many other forms. In general, adopting healthy habits -- such as maintaining optimal weight, avoiding exposure to toxins, following a physician-supervised exercise program, eating a balanced diet, correcting vitamin deficiencies, and limiting or avoiding alcohol consumption -- can reduce the physical and emotional effects of peripheral neuropathy. Systemic diseases frequently require more complex treatments.
There is no cure for striatonigral degeneration, and treatments for the disorder have variable success. Treatments used for Parkinson's disease are recommended. However, unlike Parkinson's disease, striatonigral degeneration is not responsive to levodopa. Dopamine and anticholinergics provide some benefit. Generally, treatment is reevaluated as the disorder progresses.
Tests that examine the rectum and anus are used to detect (find) and diagnose anal cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Digital rectal examination (DRE): An exam of the anus and rectum. The doctor or nurse inserts a lubricated, gloved finger into the lower part of the rectum to feel for lumps or anything else that seems unusual. - Anoscopy: An exam of the anus and lower rectum using a short, lighted tube called an anoscope. - Proctoscopy : An exam of the rectum using a short, lighted tube called a proctoscope. - Endo-anal or endorectal ultrasound : A procedure in which an ultrasound transducer (probe) is inserted into the anus or rectum and used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. If an abnormal area is seen during the anoscopy, a biopsy may be done at that time.
Most cases of C3 glomerulopathy are sporadic, which means they occur in people with no history of the disorder in their family. Only a few reported families have had more than one family member with C3 glomerulopathy. However, many affected people have had close relatives with autoimmune diseases, which occur when the immune system malfunctions and attacks the body's tissues and organs. The connection between C3 glomerulopathy and autoimmune diseases is not fully understood.
Scientists have wondered whether obesity, lack of exercise, smoking, and radiation exposure, might increase risk. But at this time, there is no conclusive evidence that any of these factors contribute to an increased risk.
What are the signs and symptoms of Glycosylphosphatidylinositol deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycosylphosphatidylinositol deficiency. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hepatomegaly - Portal hypertension - Portal vein thrombosis - Seizures - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
People with an acute porphyria should eat a diet with an average-to-high level of carbohydrates. The recommended dietary allowance for carbohydrates is 130 g per day for adults and children 1 year of age or older; pregnant and breastfeeding women need higher intakes.2 People should avoid limiting intake of carbohydrates and calories, even for short periods of time, as this type of dieting or fasting can trigger symptoms. People with an acute porphyria who want to lose weight should talk with their health care providers about diets they can follow to lose weight gradually. People undergoing therapeutic phlebotomies should drink plenty of milk, water, or juice before and after each procedure. A health care provider may recommend vitamin and mineral supplements for people with a cutaneous porphyria.
Mutations in the ALDH5A1 gene cause succinic semialdehyde dehydrogenase deficiency. The ALDH5A1 gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme. This enzyme is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyric acid (GABA). The primary role of GABA is to prevent the brain from being overloaded with too many signals. A shortage (deficiency) of succinic semialdehyde dehydrogenase leads to an increase in the amount of GABA and a related molecule called gamma-hydroxybutyrate (GHB) in the body, particularly the brain and spinal cord (central nervous system). It is unclear how an increase in GABA and GHB causes developmental delay, seizures, and other signs and symptoms of succinic semialdehyde dehydrogenase deficiency.
These resources address the diagnosis or management of dopa-responsive dystonia: - Dartmouth-Hitchcock Children's Hospital at Dartmouth - Gene Review: Gene Review: Dystonia Overview - Gene Review: Gene Review: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia - Genetic Testing Registry: Dystonia 5, Dopa-responsive type - Genetic Testing Registry: Segawa syndrome, autosomal recessive - Genetic Testing Registry: Sepiapterin reductase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Chikungunya is a virus that spread by the same kinds of mosquitoes that spread dengue and Zika virus. Rarely, it can spread from mother to newborn around the time of birth. It may also possibly spread through infected blood. There have been outbreaks of chikungunya virus in Africa, Asia, Europe, the Indian and Pacific Oceans, the Caribbean, and Central and South America. Most people who are infected will have symptoms, which can be severe. They usually start 3-7 days after being bitten by an infected mosquito. The most common symptoms are fever and joint pain. Other symptoms may include headache, muscle pain, joint swelling, and rash. Most people feel better within a week. In some cases, however, the joint pain may last for months. People at risk for more severe disease include newborns, older adults, and people with diseases such as high blood pressure, diabetes, or heart disease. A blood test can show whether you have chikungunya virus. There are no vaccines or medicines to treat it. Drinking lots of fluids, resting, and taking non-aspirin pain relievers might help. The best way to prevent chikungunya infection is to avoid mosquito bites: - Use insect repellent - Wear clothes that cover your arms, legs, and feet - Stay in places that have air conditioning or that use window and door screens Centers for Disease Control and Prevention
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.
How is tumor necrosis factor receptor-associated periodic syndrome (TRAPS) inherited? TRAPS is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. In many cases, a person with TRAPS inherits the condition from an affected parent. In other cases, the mutation occurs for the first time in the affected person and is not inherited from a parent. For unknown reasons, some people who inherit the mutated gene never develop features of TRAPS. When this occurs, a condition is said to have reduced penetrance.
The cause of most childhood CNS germ cell tumors is not known.
Short bowel syndrome is a rare condition. Each year, short bowel syndrome affects about three out of every million people.1
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research on seizures at its research center in Bethesda, Maryland, and through grants to major medical institutions across the country. NINDS-supported scientists are exploring environmental, biological, and genetic risk factors that might make children susceptible to febrile seizures. Investigators continue to monitor the long-term impact that febrile seizures might have on intelligence, behavior, school achievement, and the development of epilepsy. Investigators also continue to explore which drugs can effectively treat or prevent febrile seizures, and to identify factors that may cause a child who has prolonged febrile seizures to develop temporal lobe epilepsy.
If you are pregnant, high blood pressure can cause problems for you and your unborn baby. You may have had high blood pressure before you got pregnant. Or you may get it once you are pregnant - a condition called gestational hypertension. Either one can cause low birth weight or premature delivery of the baby. Controlling your blood pressure during pregnancy and getting regular prenatal care are important for the health of you and your baby. Treatments for high blood pressure in pregnancy may include close monitoring of the baby, lifestyle changes, and certain medicines. Some pregnant women with high blood pressure develop preeclampsia. It's a sudden increase in blood pressure after the 20th week of pregnancy. It can be life-threatening for both you and the unborn baby. There is no proven way to prevent it. Most women who have signs of preeclampsia are closely monitored to lessen or avoid complications. The only way to "cure" preeclampsia is to deliver the baby. NIH: National Heart, Lung, and Blood Institute
Having certain syndromes can increase the risk of pancreatic NETs. 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 doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Multiple endocrine neoplasia type 1 (MEN1) syndrome is a risk factor for pancreatic NETs.
Myostatin-related muscle hypertrophy has a pattern of inheritance known as incomplete autosomal dominance. People with a mutation in both copies of the MSTN gene in each cell (homozygotes) have significantly increased muscle mass and strength. People with a mutation in one copy of the MSTN gene in each cell (heterozygotes) also have increased muscle bulk, but to a lesser degree.
- If you have diabetes, you are at least twice as likely as other people to have heart disease or a stroke. - Controlling the ABCs of diabetesA1C (blood glucose), blood pressure, and cholesterol-can cut your risk of heart disease and stroke. - Choosing foods wisely, quitting smoking, and taking medications (if needed) can all help lower your risk of heart disease and stroke. - If you have any warning signs of a heart attack or a stroke, get medical care immediatelydon't delay. Early treatment of heart attack and stroke in a hospital emergency room can reduce damage to the heart and the brain.
What are the signs and symptoms of Focal dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal dystonia. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal dominant inheritance - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
How is von Hippel-Lindau (VHL) disease inherited? Mutations in the gene that causes VHL disease (the VHL gene) are inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the VHL gene in each cell is enough to increase a person's risk of developing VHL disease. In most autosomal dominant conditions, having one mutated copy of the responsible gene is sufficient to cause the condition. However, in VHL disease, a mutation in the other copy of the gene must occur (during a person's lifetime) to trigger the development of VHL disease. For example, a person may inherit a mutated copy of the gene from a parent, but acquiring a second mutation in the other gene copy in a specific organ may trigger tumor development in that organ. Almost everyone who is born with one VHL mutation will eventually acquire a mutation in the second copy of the gene and develop VHL disease. In most cases, an affected person inherits the first mutated gene from an affected parent. However, in about 20% of cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that can lead to VHL disease has children, each of their children has a 50% (1 in 2) chance to inherit that mutation.
There is no cure for Gerstmann's syndrome. Treatment is symptomatic and supportive. Occupational and speech therapies may help diminish the dysgraphia and apraxia. In addition, calculators and word processors may help school children cope with the symptoms of the disorder.
Scoliosis causes a sideways curve of your backbone, or spine. These curves are often S- or C-shaped. Scoliosis is most common in late childhood and the early teens, when children grow fast. Girls are more likely to have it than boys. It can run in families. Symptoms include leaning to one side and having uneven shoulders and hips. Doctors use your medical and family history, a physical exam, and imaging tests to diagnose scoliosis. Treatment depends on your age, how much more you're likely to grow, how much curving there is, and whether the curve is temporary or permanent. People with mild scoliosis might only need checkups to see if the curve is getting worse. Others might need to wear a brace or have surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Acute hepatitis C is a short-term infection with the hepatitis C virus. Symptoms can last up to 6 months. The infection sometimes clears up because your body is able to fight off the infection and get rid of the virus.
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to IRDin its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Research is focused on finding better ways to prevent, treat, and ultimately cure disorders such as the PBDs.
Alagille syndrome is an inherited disorder in which a person has fewer than the normal number of small bile ducts inside the liver. It is a complex disorder that can affect other parts of the body including the heart, kidneys, blood vessels, eyes, face, and skeleton. Symptoms, including jaundice, pale, loose stools, and poor growth, typically develop in the first 2 years of life. Symptoms and symptom severity varies, even among people in the same family. Alagille syndrome is caused by mutations in the JAG1 and NOTCH2 genes. It is inherited in an autosomal dominant pattern. Treatment is symptomatic and supportive. In severe cases, liver transplant may be necessary.
Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. The signs and symptoms of MEMSA typically appear during young adulthood. This condition had previously been known as spinocerebellar ataxia with epilepsy (SCAE). The first symptom of MEMSA is usually cerebellar ataxia, which refers to problems with coordination and balance due to defects in the part of the brain that is involved in coordinating movement (cerebellum). Recurrent seizures (epilepsy) usually develop later, often in combination with uncontrollable muscle jerks (myoclonus). The seizures usually begin in the right arm and spread to become generalized throughout the body. Additionally, affected individuals may have severe brain dysfunction (encephalopathy) or muscle weakness (myopathy). The myopathy can affect muscles close to the center of the body (proximal), such as the muscles of the hips, thighs, upper arms, or neck, or muscles farther away from the center of the body (distal), such as the muscles of the hands or feet. The myopathy may be especially noticeable during exercise (exercise intolerance).
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.
Since 1986, a hepatitis B vaccine has been available and should be given to newborns and children in the United States. The vaccine, however, is unavailableor has only recently become availablein many parts of the world. You are at higher risk for hepatitis B if you or your mother was born in a region of the world where hepatitis B is common, meaning 2 percent or more of the population is chronically infected with the hepatitis B virus.1 In most Asian and Pacific Island nations, 8 to 16 percent of the population is chronically infected.2
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder characterized by progressive weakness and impaired sensory function in the legs and arms. The disorder, which is sometimes called chronic relapsing polyneuropathy, is caused by damage to the myelin sheath (the fatty covering that wraps around and protects nerve fibers) of the peripheral nerves. Although it can occur at any age and in both genders, CIDP is more common in young adults, and in men more so than women. It often presents with symptoms that include tingling or numbness (beginning in the toes and fingers), weakness of the arms and legs, loss of deep tendon reflexes (areflexia), fatigue, and abnormal sensations. CIDP is closely related to Guillain-Barre syndrome and it is considered the chronic counterpart of that acute disease.
Summary : Colonoscopy and sigmoidoscopy are procedures that let your doctor look inside your large intestine. They use instruments called scopes. Scopes have a tiny camera attached to a long, thin tube. The procedures let your doctor see things such as inflamed tissue, abnormal growths, and ulcers. Colonoscopy checks your entire colon and rectum. Sigmoidoscopy checks the rectum and the lower colon only. Your doctor may recommend one of these procedures - To look for early signs of cancer in the colon and rectum. It may be part of a routine screening, which usually starts at age 50. - To look for causes of unexplained changes in bowel habits - To evaluate symptoms like abdominal pain, rectal bleeding, and weight loss Your doctor can also remove polyps from your colon during these procedures. You will get written bowel prep instructions to follow at home before the procedure. The bowel prep cleans out the intestine so your doctor can see everything clearly. During a colonoscopy, you get medicines to keep you relaxed. You usually do not need them for a sigmoidoscopy. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
The prognosis for individuals with SOD varies according to the presence and severity of symptoms.
What causes leukonychia totalis? Leukonychia totalis (also called total leukonychia) is thought to be due to abnormal keratinization (conversion into keratin) of the nail plate. Keratin is a protein that is a major component of the epidermis (outer layer of skin), hair, nails, and horny tissues. The condition is usually inherited, following either an autosomal dominant or autosomal recessive inheritance pattern. These inherited forms can be caused by mutations in the PLCD1 gene. In some cases, leukonychia occurs in association with other underlying abnormalities or syndromes. Conditions that have been reported include palmoplantar keratoderma; certain types of cysts; severe keratosis pilaris; pili torti; hypotrichosis (lack of hair growth); onychorrhexis (brittle nails); koilonychia (spoon-shaped nails); Bart-Pumphrey syndrome; and Buschkell-Gorlin syndrome, when it occurs with sebaceous cysts and kidney stones. It has also reportedly been associated with typhoid fever, leprosy, cirrhosis, nail biting, trichinosis, and cytotoxic drugs (drugs that are toxic to cells). In a few cases, the cause of leukonychia is unknown (idiopathic).
Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children. Affected children develop a prolonged fever lasting several days, a skin rash, and swollen lymph nodes in the neck (cervical lymphadenopathy). They also develop redness in the whites of the eyes (conjunctivitis) and redness (erythema) of the lips, lining of the mouth (oral mucosa), tongue, palms of the hands, and soles of the feet. Without treatment, 15 to 25 percent of individuals with Kawasaki disease develop bulging and thinning of the walls of the arteries that supply blood to the heart muscle (coronary artery aneurysms) or other damage to the coronary arteries, which can be life-threatening.
Hantavirus pulmonary syndrome (HPS) is a rare but deadly viral infection. It is spread by mice and rats. They shed the virus in their urine, droppings, and saliva. Tiny droplets with the virus can enter the air. People can get the disease if they breathe infected air or come into contact with rodents or their urine or droppings. You cannot catch it from people. Early symptoms of HPS include - Fatigue - Fever - Muscle aches, especially in the thighs, hips and back - Headaches - Chills - Dizziness - Nausea, vomiting, diarrhea or abdominal pain Later symptoms include coughing and shortness of breath. Controlling rodents in and around your house is the best way to prevent infection. If you have been around rodents and have symptoms of fever, deep muscle aches, and severe shortness of breath, see your doctor immediately. There is no specific treatment, cure, or vaccine for HPS. Patients may do better if it is recognized early and they get medical care in an intensive care unit. They often need to use a breathing machine and have oxygen therapy. Centers for Disease Control and Prevention
Hepatitis* A is a virus, or infection, that causes liver disease and inflammation of the liver. Viruses can cause sickness. For example, the flu is caused by a virus. People can pass viruses to each other. Inflammation is swelling that occurs when tissues of the body become injured or infected. Inflammation can cause organs to not work properly.
What are the signs and symptoms of Florid papillomatosis of the nipple? The Human Phenotype Ontology provides the following list of signs and symptoms for Florid papillomatosis of the nipple. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Prescription medicines can help people with alcohol use disorder reduce their drinking, avoid going back to heavy drinking, and get sober. None of them works in every person. There are three medications approved by the U.S. Food and Drug Administration for the treatment of alcohol use disorder. - Naltrexone (Depade, ReVia, Vivitrol) acts in the brain to reduce craving for alcohol - Acamprosate (Campral) helps manage withdrawal symptoms such as anxiety, nausea, and sweating that may lead to a drinking relapse - Disulfiram (Antabuse) makes a person feel sick after drinking alcohol. Naltrexone (Depade, ReVia, Vivitrol) acts in the brain to reduce craving for alcohol Acamprosate (Campral) helps manage withdrawal symptoms such as anxiety, nausea, and sweating that may lead to a drinking relapse Disulfiram (Antabuse) makes a person feel sick after drinking alcohol.
In about 75 percent of cases, hereditary spherocytosis 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 some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. This condition can also be 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.
Cholesteryl ester storage disease appears to be a rare disorder. About 50 individuals affected by this condition have been reported worldwide.
The NINDS funds research to find the genes involved in diseases that cause cerebellar degeneration. Discovering these genes, identifying their mutations, and understanding how the abnormal proteins they produce cause cerebellar degeneration may eventually help scientists find ways to prevent, treat, and even cure the diseases that involve cerebellar degeneration.
Mutations in the SCN9A gene cause congenital insensitivity to pain. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. NaV1.7 sodium channels are found in nerve cells called nociceptors that transmit pain signals to the spinal cord and brain. The NaV1.7 channel is also found in olfactory sensory neurons, which are nerve cells in the nasal cavity that transmit smell-related signals to the brain. The SCN9A gene mutations that cause congenital insensitivity to pain result in the production of nonfunctional alpha subunits that cannot be incorporated into NaV1.7 channels. As a result, the channels cannot be formed. The absence of NaV1.7 channels impairs the transmission of pain signals from the site of injury to the brain, causing those affected to be insensitive to pain. Loss of this channel in olfactory sensory neurons likely impairs the transmission of smell-related signals to the brain, leading to anosmia.
Common Symptoms The most common symptoms of heart failure include shortness of breath or difficulty breathing, feeling tired, and swelling. Swelling usually occurs in the ankles, feet, legs, and sometimes in the abdomen. Swelling is caused by fluid buildup in the body. The fluid buildup can lead to weight gain as well as a cough. The cough can be worse at night and when lying down. When symptoms first begin, you might feel tired or short of breath after routine physical activities, such as climbing stairs. As heart failure progresses, the symptoms get worse. You may feel tired or short of breath after performing simple activities, like getting dressed.
Factor X deficiency occurs in approximately 1 per million individuals worldwide.
These resources address the diagnosis or management of task-specific focal dystonia: - Dystonia Medical Research Foundation: How Is Dystonia Diagnosed? - Dystonia Medical Research Foundation: Treatments - Gene Review: Gene Review: Dystonia Overview - Genetic Testing Registry: Focal dystonia - Merck Manual Home Health Handbook: Dystonias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Although most individuals still need to take medication after undergoing DBS, many people with Parkinsons disease experience considerable reduction of their motor symptoms and are able to reduce their medications. The amount of reduction varies but can be considerably reduced in most individuals, and can lead to a significant improvement in side effects such as dyskinesias (involuntary movements caused by long-term use of levodopa). In some cases, the stimulation itself can suppress dyskinesias without a reduction in medication. DBS does not improve cognitive symptoms in PD and indeed may worsen them, so it is not generally used if there are signs of dementia. DBS changes the brain firing pattern but does not slow the progression of the neurodegeneration.
What causes Coats disease? The exact cause of Coats disease is not currently known. However, it is a reported feature of several different genetic syndromes, suggesting there may be a genetic component.[4716] Researchers believe that some cases of Coats disease may be due to somatic mutations in the NDP gene, which lead to deficient levels of a protein called norrin in the developing retina. A somatic mutation in this case is one that is acquired after conception (i.e. it was not inherited from a parent and cannot be passed on to an affected person's children).
Dihydrolipoamide dehydrogenase deficiency occurs in an estimated 1 in 35,000 to 48,000 individuals of Ashkenazi Jewish descent. This population typically has liver disease as the primary symptom. In other populations, the prevalence of dihydrolipoamide dehydrogenase deficiency is unknown, but the condition is likely rare.
There is no cure for NMO and no FDA-approved therapies, but there are therapies to treat an attack while it is happening, to reduce symptoms, and to prevent relapses.NMO relapses and attacks are often treated with corticosteroid drugs and plasma exchange (also called plasmapheresis, a process used to remove harmful antibodies from the bloodstream). Immunosuppressvie drugs used to prevent attacks include mycophenolate mofetil, rituximab, and azathioprine. Pain, stiffness, muscle spasms, and bladder and bowel control problems can be managed with medicaitons and therapies. Individuals with major disability will require the combined efforts to physical and occupational therapists, along with social services professionals to address complex rehabilitation needs.
Having certain genetic syndromes may increase the risk of a central nervous system tumor. Anything that increases your 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 you may be at risk. There are few known risk factors for brain tumors. The following conditions may increase the risk of certain types of brain tumors: - Being exposed to vinyl chloride may increase the risk of glioma. - Infection with the Epstein-Barr virus, having AIDS (acquired immunodeficiency syndrome), or receiving an organ transplant may increase the risk of primary CNS lymphoma. (See the PDQ summary on Primary CNS Lymphoma for more information.) - Having certain genetic syndromes may increase the risk brain tumors: - Neurofibromatosis type 1 (NF1) or 2 (NF2). - von Hippel-Lindau disease. - Tuberous sclerosis. - Li-Fraumeni syndrome. - Turcot syndrome type 1 or 2. - Nevoid basal cell carcinoma syndrome.
Researchers have identified changes in five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in a gene called MED12, which is located in one of these regions, appear to be the most common cause of the disorder. Researchers are investigating genes in other regions of the X chromosome that may also be associated with FG syndrome. The MED12 gene provides instructions for making a protein that helps regulate gene activity. Specifically, the MED12 protein forms part of a large complex (a group of proteins that work together) that turns genes on and off. The MED12 protein is thought to play an essential role in development both before and after birth. At least two mutations in the MED12 gene have been found to cause FG syndrome. Although the mutations alter the structure of the MED12 protein, it is unclear how they lead to intellectual disability, behavioral changes, and the physical features associated with this condition.
Mutations in the MLYCD gene cause malonyl-CoA decarboxylase deficiency. The MLYCD gene provides instructions for making an enzyme called malonyl-CoA decarboxylase. Within cells, this enzyme helps regulate the formation and breakdown of a group of fats called fatty acids. Many tissues, including the heart muscle, use fatty acids as a major source of energy. Mutations in the MLYCD gene reduce or eliminate the function of malonyl-CoA decarboxylase. A shortage of this enzyme disrupts the normal balance of fatty acid formation and breakdown in the body. As a result, fatty acids cannot be converted to energy, which can lead to characteristic features of this disorder including low blood sugar and cardiomyopathy. Byproducts of fatty acid processing build up in tissues, which also contributes to the signs and symptoms of malonyl-CoA decarboxylase deficiency.
What causes granuloma annulare? The cause of granuloma annulare is unknown, although there is much evidence that it is linked to the immune system. It has been reported to follow insect bites; sun exposure; tuberculin skin tests, ingestion of allopurinol; trauma; and viral infections, including Epstein-Barr, HIV, hepatitis C, and herpes zoster. Occasionally, granuloma annulare may be associated with diabetes or thyroid disease.
Hemochromatosis is a disease in which too much iron builds up in your body. Your body needs iron but too much of it is toxic. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart, and pancreas. The extra iron can damage your organs. Without treatment, it can cause your organs to fail. There are two types of hemochromatosis. Primary hemochromatosis is an inherited disease. Secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions. Many symptoms of hemochromatosis are similar to those of other diseases. Not everyone has symptoms. If you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain. Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. Treatments include removing blood (and iron) from your body, medicines, and changes in your diet. NIH: National Heart, Lung, and Blood Institute
Wallenbergs syndrome is a neurological condition caused by a stroke in the vertebral or posterior inferior cerebellar artery of the brain stem. Symptoms include difficulties with swallowing, hoarseness, dizziness, nausea and vomiting, rapid involuntary movements of the eyes (nystagmus), and problems with balance and gait coordination. Some individuals will experience a lack of pain and temperature sensation on only one side of the face, or a pattern of symptoms on opposite sides of the body such as paralysis or numbness in the right side of the face, with weak or numb limbs on the left side. Uncontrollable hiccups may also occur, and some individuals will lose their sense of taste on one side of the tongue, while preserving taste sensations on the other side. Some people with Wallenbergs syndrome report that the world seems to be tilted in an unsettling way, which makes it difficult to keep their balance when they walk.
These resources address the diagnosis or management of fragile X syndrome: - Gene Review: Gene Review: FMR1-Related Disorders - GeneFacts: Fragile X Syndrome: Diagnosis - GeneFacts: Fragile X Syndrome: Management - Genetic Testing Registry: Fragile X syndrome - MedlinePlus Encyclopedia: Fragile X syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from little or no trauma. Severity varies among affected people. Multiple fractures are common, and in severe cases, can even occur before birth. Milder cases may involve only a few fractures over a person's lifetime. People with OI also have dental problems (dentinogenesis imperfecta) and hearing loss in adulthood. Other features may include muscle weakness, loose joints, and skeletal malformations. There are various recognized forms of OI which are distinguished by their features and genetic causes. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive manner. Treatment is supportive and aims to decrease the number of fractures and disabilities.
What are the signs and symptoms of Trichotillomania? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichotillomania. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia - Autosomal dominant inheritance - Hair-pulling - Multifactorial inheritance - Obsessive-compulsive behavior - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
McCune-Albright syndrome occurs in between 1 in 100,000 and 1 in 1,000,000 people worldwide.
Treatment of juvenile myelomonocytic leukemia (JMML) may include the following: - Combination chemotherapy. - Stem cell transplant. - 13-cis-retinoic acid therapy. - A clinical trial of a new treatment, such as targeted therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with juvenile myelomonocytic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Spondylocarpotarsal synostosis (SCT) syndrome is an inherited syndrome characterized by disproportionate short stature, abnormalities of the vertebrae in the spine, scoliosis and lordosis, carpal and tarsal fusion (fusion of the bones in the hands and feet), clubfoot, and facial abnormalities such as round face, large forehead, and up-turned nostrils. Other features can include cleft palate, deafness, loose joints, and poor formation of tooth enamel. SCT syndrome has been associated with retinal anomalies and cataracts. However, these eye problems are usually not severe enough to impair vision. This condition is caused by mutations in the FLNB gene. It is inherited in an autosomal recessive manner in families, which means that parents are usually unaffected and children have to have inherited a gene mutation from each parent.
The prognosis for individuals with colpocephaly depends on the severity of the associated conditions and the degree of abnormal brain development. Some children benefit from special education.
These resources address the diagnosis or management of medullary cystic kidney disease type 1: - MedlinePlus Encyclopedia: Medullary Cystic Kidney Disease - Merck Manual for Health Care Professionals: Nephronophthisis and Medullary Cystic Kidney Disease Complex These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. Approximately 100 cases have been reported worldwide.
These resources address the diagnosis or management of arterial tortuosity syndrome: - Gene Review: Gene Review: Arterial Tortuosity Syndrome - Genetic Testing Registry: Arterial tortuosity syndrome - Johns Hopkins McKusick-Nathans Institute of Genetic Medicine - National Heart, Lung, and Blood Institute: How is an Aneurysm Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of pachyonychia congenita: - Gene Review: Gene Review: Pachyonychia Congenita - Genetic Testing Registry: Pachyonychia congenita 4 - Genetic Testing Registry: Pachyonychia congenita syndrome - Genetic Testing Registry: Pachyonychia congenita type 2 - Genetic Testing Registry: Pachyonychia congenita, type 1 - MedlinePlus Encyclopedia: Nail Abnormalities - MedlinePlus Encyclopedia: Natal Teeth These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), a broad nose, protruding nostrils (nares), an abnormally prominent brow, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large low-set ears, and unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis), unusual prominence of the breastbone (pigeon chest, or pectus carinatum), dental abnormalities, and short, hyperextensible, tapered fingers. Other features may include feeding and respiratory problems, developmental delay, hearing impairment, awkward gait, stimulus-induced drop episodes, and heart and kidney involvement. The disorder affects males and females in equal numbers, but symptoms are usually more severe in males. The disorder is caused by a defective gene, RSK2, which is found in 1996 on the X chromosome (Xp22.2-p22.1). Thus, the syndrome is typically more severe in males because males have only one X chromosome, while females have two. It is unclear how changes (mutations) in the DNA structure of the gene lead to the clinical findings.
- Peritoneal dialysis is a treatment for kidney failure that uses the lining of your abdomen, or belly, to filter your blood inside your body. - The two types of peritoneal dialysis are continuous ambulatory peritoneal dialysis and automated peritoneal dialysis. - The most common problem with peritoneal dialysis is peritonitis, a serious abdominal infection. - When dialysis solution stays in the body too long, it becomes so full of wastes and extra fluid that it cannot absorb any more from the body. The process may even reverse, letting some wastes and extra fluid back into the body. - Eating the right foods can help you feel better while on peritoneal dialysis. Talk with your dialysis centers dietitian to find a meal plan that works for you.
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 Smith-Magenis syndrome: - Gene Review: Gene Review: Smith-Magenis Syndrome - Genetic Testing Registry: Smith-Magenis syndrome - MedlinePlus Encyclopedia: Intellectual Disability These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How is osteomesopyknosis inherited? Osteomesopyknosis is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene (which has not yet been identified) is enough to cause signs or symptoms of the disorder. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to be affected. There have been reported cases where both parents of an affected person did not appear to have the condition. The chance of having signs and symptoms when the responsible mutation is present (penetrance), and potential nature of signs and symptoms (expressivity), is not clear.
These resources address the diagnosis or management of 3-beta-hydroxysteroid dehydrogenase deficiency: - Genetic Testing Registry: 3 beta-Hydroxysteroid dehydrogenase deficiency - Great Ormond Street Hospital for Children: Cortisol Deficiency - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Congenital Adrenal Hyperplasia - MedlinePlus Health Topic: Assisted Reproductive Technology - National Institutes of Health Clinical Center: Managing Adrenal Insufficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Is genetic testing available for orofaciodigital syndrome 1 (OFD1)? Genetic testing for orofaciodigital syndrome 1 is clinically available. OFD1 is the only gene currently known to be associated with this condition. Testing is often used to confirm or establish the diagnosis in an individual when OFD1 is suspected. A change (mutation) in the OFD1 gene is detected in up to 85% of individuals who have OFD1. You can find laboratories offering clinical genetic testing for OFD1 on a website called GeneTests. To see a listing of clinical testing laboratories click here. GeneTests does not currently list laboratories doing research testing for OFD1.
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.
Hodgkin disease is a type of lymphoma. Lymphoma is a cancer of a part of the immune system called the lymph system. The first sign of Hodgkin disease is often an enlarged lymph node. The disease can spread to nearby lymph nodes. Later it may spread to the lungs, liver, or bone marrow. The exact cause is unknown. Hodgkin disease is rare. Symptoms include - Painless swelling of the lymph nodes in the neck, armpits, or groin - Fever and chills - Night sweats - Weight loss - Loss of appetite - Itchy skin To diagnose Hodgkin disease, doctors use a physical exam and history, blood tests, and a biopsy. Treatment depends on how far the disease has spread. It often includes radiation therapy or chemotherapy. The earlier the disease is diagnosed, the more effective the treatment. In most cases, Hodgkin disease can be cured. NIH: National Cancer Institute
CJD is usually diagnosed based on signs and symptoms of the illness, how severe they are, and how quickly they become worse. However, doctors must study brain tissue from a biopsy or autopsy in order to make a definite diagnosis of CJD. Other tests can suggest CJD. In 1996, researchers developed a test that helps doctors diagnose CJD in patients with symptoms. This test detects an abnormal protein in a sample of spinal fluid. When this protein is found, it helps make a diagnosis of CJD. It is much easier and safer to take a sample of spinal fluid than to do a brain biopsy. Unfortunately, this test cannot identify CJD in patients who do not have symptoms. The test cannot predict who may develop CJD in the future. Researchers from many countries, including the United States, have reported success using MRI to diagnose CJD and vCJD in people with symptoms of the disease. MRI is a safe and painless tool that allows doctors to look at images of the brain and does not involve the collection of brain or spinal fluid samples.

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