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Measles is an infectious disease caused by a virus. It spreads easily from person to person. It causes a blotchy red rash. The rash often starts on the head and moves down the body. Other symptoms include - Fever - Cough - Runny nose - Conjunctivitis (pink eye) - Feeling achy and run down - Tiny white spots inside the mouth Sometimes measles can lead to serious problems. There is no treatment for measles, but the measles-mumps-rubella (MMR) vaccine can prevent it. "German measles", also known as rubella, is a completely different illness. Centers for Disease Control and Prevention
Adermatoglyphia appears to be a rare condition. Only a few affected families have been identified worldwide.
Glutathione synthetase deficiency is type of organic acidemia that affects the production glutathione. Glutathione helps prevent cell damage, build DNA and proteins, and process medications and cancer-causing compounds. People can have mild, moderate, or severe disease. Mild disease may cause hemolytic anemia and 5-oxoprolinuria (excess excretion of 5-oxoproline in urine). Moderate disease may cause anemia, 5-oxoprolinuria, and metabolic acidosis in early infancy. Severe disease may cause anemia, 5-oxoprolinuria, metabolic acidosis, neurological symptoms (e.g., seizures, learning disability, loss of coordination), and recurrent infections. It is caused by mutations in the GSS gene and is inherited in an autosomal recessive fashion.
These resources address the diagnosis or management of juvenile primary lateral sclerosis: - Gene Review: Gene Review: ALS2-Related Disorders - Genetic Testing Registry: Juvenile primary lateral sclerosis 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 might von Hippel-Lindau (VHL) disease be treated? Treatment for Von Hippel-Lindau (VHL) disease depends on the location and size of tumors. In general, the goal is to treat growths when they cause symptoms, but are still small so they don't cause permanent damage. Treatment usually involves surgical removal of tumors. Radiation therapy may be used in some cases. All people with VHL disease should be carefully followed by a physician or medical team familiar with the disorder.
The leading risk factor for shingles is a history of having had chickenpox. One out of every five people who have had chickenpox is likely to get shingles. Another risk factor is aging. As we age, our natural immunity gradually loses its ability to protect against infection. The shingles virus can take advantage of this and become active again. Conditions that weaken the immune system can also put people at risk for shingles. Shingles is especially dangerous for anyone who has had cancer, radiation treatments for cancer, HIV/AIDS, or a transplant operation. Our immune system gradually loses strength as we mature. After people reach 50, the body is not able to fight off infections as easily as it once did.
Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in children may present as feeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.
What causes hemorrhagic shock and encephalopathy syndrome? The cause of hemorrhagic shock and encephalopathy syndrome is unknown. Some researchers believe that this condition is caused by a complex combination of genetic and environmental factors. Researchers have proposed various factors that may contribute to the development of this condition, including infection, exposure to toxins in the environment, and overwrapping of infants with a fever. Hemorrhagic shock and encephalopathy syndrome has not been reported to be associated with a specific ethnic group or religious background.
Crigler Najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to jaundice and damage to the brain, muscles, and nerves. Crigler Najjar syndrome, type 1 is caused by mutations in the UGT1A1 gene. The condition is inherited in an autosomal recessive manner. Treatment relies on regular phototherapy throughout life. Blood transfusions and calcium compounds have also been used. Liver transplantation may be considered in some individuals.
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 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.
These resources address the diagnosis or management of acral peeling skin syndrome: - Birmingham Children's Hospital, National Health Service (UK) - Genetic Testing Registry: Peeling skin syndrome, acral type 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
Summary : The field of ethics studies principles of right and wrong. There is hardly an area in medicine that doesn't have an ethical aspect. For example, there are ethical issues relating to - End of life care: Should a patient receive nutrition? What about advance directives and resuscitation orders? - Abortion: When does life begin? Is it ethical to terminate a pregnancy with a birth defect? - Genetic and prenatal testing: What happens if you are a carrier of a defect? What if testing shows that your unborn baby has a defect? - Birth control: Should it be available to minors? - Is it ethical to harvest embryonic stem cells to treat diseases? - Organ donation: Must a relative donate an organ to a sick relative? - Your personal health information: who has access to your records? - Patient rights: Do you have the right to refuse treatment? - When you talk with your doctor, is it ethical for her to withhold information from you or your family?
These resources address the diagnosis or management of cerebral cavernous malformation: - Angioma Alliance: Imaging and Diagnostics - Gene Review: Gene Review: Familial Cerebral Cavernous Malformation - Genetic Testing Registry: Cerebral cavernous malformation - Genetic Testing Registry: Cerebral cavernous malformations 1 - Genetic Testing Registry: Cerebral cavernous malformations 2 - Genetic Testing Registry: Cerebral cavernous malformations 3 - MedlinePlus Encyclopedia: Cerebral angiography 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
Hereditary spherocytosis occurs in 1 in 2,000 individuals of Northern European ancestry. This condition is the most common cause of inherited anemia in that population. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown, but it is much less common.
A cerebral aneurysm is a weak or thin spot on a blood vessel in the brain that balloons out and fills with blood. An aneurysm can press on a nerve or surrounding tissue, and also leak or burst, which lets blood spill into surrounding tissues (called a hemorrhage). Cerebral aneurysms can occur at any age, although they are more common in adults than in children and are slightly more common in women than in men. The signs and symptoms of an unruptured cerebral aneurysm will partly depend on its size and rate of growth. For example, a small, unchanging aneurysm will generally produce no symptoms, whereas a larger aneurysm that is steadily growing may produce symptoms such as headache, numbness, loss of feeling in the face or problems with the eyes. Immediately after an aneurysm ruptures, an individual may experience such symptoms as a sudden and unusually severe headache, nausea, vision impairment, vomiting, and loss of consciousness.
HAIR-AN syndrome is a condition that affects women. It is characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans. Insulin resistance is a condition in which the body produces insulin but does not use it properly. This causes the pancreas to produce more insulin. High levels of insulin stimulate the ovaries to make too much androgen, leading too excessive hair growth, acne, and irregular periods. Insulin resistance can also lead to diabetes, high blood pressure, heart disease, and excessive growth and darkening of the skin (aconthosis nigricans). Women with HAIR-AN may be born with insulin resistance or acquire it over time.
More information on COPD is available at: What is COPD? and at the Learn More, Breathe Better Campaign For information on quitting smoking, visit http://www.surgeongeneral.gov/tobacco/ or Smokefree.gov. For information on the H1N1 flu and COPD, go to The Centers for Disease Control and Prevention.
Recent discoveries show that most individuals (approximately 90 percent) with Alexander disease have a mutation in the gene that makes glial fibrillary acidic protein (GFAP). GFAP is a normal component of the brain, but it is unclear how the mutations in this genecauses the disease. In most cases mutations occur spontaneously are not inherited from parents.A small number of people thought to have Alexander disease do not have identifiable mutations in GFAP, which leads researchers to believe that there may be other genetic or perhaps even non-genetic causes of Alexander disease. Current research is aimed at understanding the mechanisms by which the mutations cause disease, developing better animal models for the disorder, and exploring potential strategies for treatment. At present, there is no exact animal model for the disease; however, mice have been engineered to produce the same mutant forms of GFAP found in individuals with Alexander disease. These mice form Rosenthal fibers and have a predisposition for seizures, but do not yet mimic all features of human disease (such as the leukodystrophies). One clinical study is underway to identify biomarkers of disease severity or progression in samples of blood or cerebrospinal fluid. Such biomarkers, if found, would be a major advantage for evaluating the response to any treatments that are developed in the future.
Primary orthostatic tremor is a movement disorder characterized by rhythmic muscle contractions that occur in the legs and trunk immediately after standing. It may be perceived more as an unsteadiness than an actual tremor. The tremor may disappear or improve when a person is sitting or walking. Over time, the tremors may become more severe, affecting quality of life and causing increasing disability. In some cases, primary orthostatic tremor may occur with other movement disorders. Individuals with primary orthostatic tremor may be treated with clonazepam and primidone. The cause of this condition is unknown.
What treatment is available for sarcoidosis? The treatment of sarcoidosis depends on : the symptoms present the severity of the symptoms whether any vital organs (e.g., your lungs, eyes, heart, or brain) are affected how the organ is affected. Some organs must be treated, regardless of your symptoms. Others may not need to be treated. Usually, if a patient doesn't have symptoms, he or she doesn't need treatment, and probably will recover in time. Currently, the drug that is most commonly used to treat sarcoidosis is prednisone. When a patient's condition gets worse when taking prednisone or when the side effects of prednisone are severe in the patient, a doctor may prescribe other drugs. Most of these other drugs reduce inflammation by suppressing the immune system. These other drugs include: hydroxychloroquine (Plaquenil), methotrexate, azathioprine (Imuran), and cyclophosphamide (Cytoxan). Researchers continue to look for new and better treatments for sarcoidosis. Anti-tumor necrosis factor drugs and antibiotics are currently being studied. More detailed information about the treatment of sarcoidosis can be found at the following links: https://www.stopsarcoidosis.org/awareness/treatment-options/ http://emedicine.medscape.com/article/301914-treatment#showall
What are the signs and symptoms of Reticuloendotheliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticuloendotheliosis. 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) Anemia - Hepatosplenomegaly - Infantile onset - Jaundice - Lymphadenopathy - X-linked 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.
Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer), followed by the genitourinary tract. Skin lesions may develop before or after the diagnosis of the internal cancer. MTS is caused by changes (mutations) in the MLH1 or MSH2 genes and is inherited in an autosomal dominant manner. A mutation in either of these genes gives a person an increased lifetime risk of developing the skin changes and types of cancer associated with the condition.
The prevalence of WAGR syndrome ranges from 1 in 500,000 to one million individuals. It is estimated that one-third of people with aniridia actually have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms tumor can be attributed to WAGR syndrome.
Your kidneys are two bean-shaped organs, each about the size of a fist. They are located just below your rib cage, one on each side of your spine. Every day, your two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine. Urine flows from your kidneys to your bladder through tubes called ureters. Your bladder stores urine until releasing it through urination.
Multiple mitochondrial dysfunctions syndrome is a rare condition; its prevalence is unknown. It is one of several conditions classified as mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide.
Medullary sponge kidney affects about one person per 5,000 people in the United States. Researchers have reported that 12 to 20 percent of people who develop calcium-based kidney stones have medullary sponge kidney1.
These resources address the diagnosis or management of L1 syndrome: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: L1 Syndrome - Genetic Testing Registry: Corpus callosum, partial agenesis of, X-linked - Genetic Testing Registry: L1 Syndrome - Genetic Testing Registry: Spastic paraplegia 1 - Genetic Testing Registry: X-linked hydrocephalus 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
What are the signs and symptoms of Kowarski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kowarski syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Delayed skeletal maturation - Pituitary dwarfism - 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.
A bruise is a mark on your skin caused by blood trapped under the surface. It happens when an injury crushes small blood vessels but does not break the skin. Those vessels break open and leak blood under the skin. Bruises are often painful and swollen. You can get skin, muscle and bone bruises. Bone bruises are the most serious. It can take months for a bruise to fade, but most last about two weeks. They start off a reddish color, and then turn bluish-purple and greenish-yellow before returning to normal. To reduce bruising, ice the injured area and elevate it above your heart. See your healthcare provider if you seem to bruise for no reason, or if the bruise appears to be infected.
Familial prostate cancer is a cluster of prostate cancer within a family. Most cases of prostate cancer occur sporadically in people with no family history of the condition. However, approximately 5% to 10% of prostate cancer cases are believed to be primarily caused by a genetic predisposition to the condition. In many families, the underlying genetic cause is unknown; however, some of these cases are caused by changes (mutations) in the BRCA1, BRCA2, HOXB13, or several other genes. Other cases are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening at an earlier age is typically recommended in men who have an increased risk for prostate cancer based on personal and/or family histories.
Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties. Parkinsonism and psychiatric changes are usually the earliest features of Perry syndrome. Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. These movement abnormalities are often accompanied by changes in personality and behavior. The most frequent psychiatric changes that occur in people with Perry syndrome include depression, a general loss of interest and enthusiasm (apathy), withdrawal from friends and family, and suicidal thoughts. Many affected individuals also experience significant, unexplained weight loss early in the disease. Hypoventilation is a later feature of Perry syndrome. Abnormally slow breathing most often occurs at night, causing affected individuals to wake up frequently. As the disease worsens, hypoventilation can result in a life-threatening lack of oxygen and respiratory failure. People with Perry syndrome typically survive for about 5 years after signs and symptoms first appear. Most affected individuals ultimately die of respiratory failure or pneumonia. Suicide is another cause of death in this condition.
These resources address the diagnosis or management of autosomal recessive congenital stationary night blindness: - Genetic Testing Registry: Congenital stationary night blindness, type 1B - Genetic Testing Registry: Congenital stationary night blindness, type 1C - Genetic Testing Registry: Congenital stationary night blindness, type 1D - Genetic Testing Registry: Congenital stationary night blindness, type 1E - Genetic Testing Registry: Congenital stationary night blindness, type 1F - Genetic Testing Registry: Congenital stationary night blindness, type 2B 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 Townes-Brocks syndrome diagnosed? Townes-Brocks syndrome is diagnosed clinically based on the presence of the following: Imperforate anus Abnormally shaped ears Typical thumb malformations (preaxial polydactyly, triphalangeal thumbs which have three bones in them, much like the fingers, instead of the normal two, hypoplastic or underdeveloped thumbs) without shortening of the radius (the larger of the two bones in the forearm) SALL1 is the only gene known to be associated with Townes-Brocks syndrome. Detection of a SALL1 mutation confirms the diagnosis. Genetic testing is available on a clinical basis.
Children with kidney stones may have pain while urinating, see blood in the urine, or feel a sharp pain in the back or lower abdomen. The pain may last for a short or long time. Children may experience nausea and vomiting with the pain. However, children who have small stones that pass easily through the urinary tract may not have symptoms at all.
How might a pineocytoma be treated? Because pineocytomas are quite rare, there are no consensus guidelines on the best treatment for these tumors. However, surgery to remove the entire tumor is considered the standard treatment. Because these tumors are located deep in the brain, it is important that the risks of surgery be carefully considered in each person. Radiation therapy is sometimes used following surgery to destroy any tumor cells that may remain, but the benefit of this additional treatment is questionable.
What causes trisomy 17 mosaicism? Trisomy 17 mosaicism can arise due to errors in cell division that occur after conception. For example, at the time of conception, the fetus may actually have trisomy 17 in all of its cells; however, during cell division, some of the cells lose the extra chromosome 17. Alternatively, the fetus may initially have had only two copies of chromosome 17, but due to errors in cell division some of the cells end up with an extra copy of chromosome 17. Either of these two scenarios result in trisomy 17 mosaicism. To read more about trisomy mosaicism, visit the following links from the Medical Genetics Department at the University of British Columbia in Canada. What is mosaicism? How does trisomy mosaicism occur?
Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems. People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal. People with Treacher Collins syndrome usually have normal intelligence.
These resources address the diagnosis or management of Koolen-de Vries syndrome: - Gene Review: Gene Review: KANSL1-Related Intellectual Disability Syndrome - Genetic Testing Registry: Koolen-de Vries 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
Juvenile primary lateral sclerosis is a rare disorder, with few reported cases.
Summary : You may have heard of anabolic steroids, which can have harmful effects. But there's another type of steroid - sometimes called a corticosteroid - that treats a variety of problems. These steroids are similar to hormones that your adrenal glands make to fight stress associated with illnesses and injuries. They reduce inflammation and affect the immune system. You may need to take corticosteroids to treat - Arthritis - Asthma - Autoimmune diseases such as lupus and multiple sclerosis - Skin conditions such as eczema and rashes - Some kinds of cancer Steroids are strong medicines, and they can have side effects, including weakened bones and cataracts. Because of this, you usually take them for as short a time as possible.
You cant prevent asthma. However, you can take steps to control the disease and prevent its symptoms. For example: Learn about your asthma and ways to control it. Follow your written asthma action plan. (For a sample plan, go to the National Heart, Lung, and Blood Institute's "Asthma Action Plan.") Use medicines as your doctor prescribes. Identify and try to avoid things that make your asthma worse (asthma triggers). However, one trigger you should not avoid is physical activity. Physical activity is an important part of a healthy lifestyle. Talk with your doctor about medicines that can help you stay active. Keep track of your asthma symptoms and level of control. Get regular checkups for your asthma. For more details about how to prevent asthma symptoms and attacks, go to "How Is Asthma Treated and Controlled?"
Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. It is the result of abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. The mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body. KSS is characterized by progressive limitation of eye movements until there is complete immobility, accompanied by eyelid droop. It is also associated with abnormal accumulation of pigmented material on the membrane lining the eyes. Additional symptoms may include mild skeletal muscle weakness, heart block (a cardiac conduction defect), short stature, hearing loss, an inability to coordinate voluntary movements (ataxia), impaired cognitive function, and diabetes. Seizures are infrequent. Several endocrine disorders can be associated with KSS.
What causes Bell's palsy?
Frequently Asked Questions (FAQs) Fact Sheets
Eisenmenger syndrome is a rare progressive heart condition caused by a structural error in the heart, typically a "hole in the heart" (ventricular septal defect) present at birth (congenital heart defect). This causes abnormal blood flow in the heart, resulting in high pressure within the pulmonary artery, the main blood vessel that connects the heart to the lungs (pulmonary hypertension).
Both men and women can get IC/PBS, though twice as many women are affected as men. It can occur at any age, but it is most common in middle age. People with IC/PBS rarely have bladder pain all the time. The pain usually comes and goes as the bladder fills and then empties. The pain may go away for weeks or months and then return. People with IC/PBS sometimes refer to an attack of bladder pain as a flare or flare-up. Stress may bring on a flare-up of symptoms in someone who has IC/PBS. But stress does not cause a person to get IC/PBS.
What treatment is available for rickets? The treatment for rickets depends on the cause of the condition. If rickets is caused by a lack of vitamin D in the diet, then it is usually treated with carefully adjusted levels of vitamin D and calcium. The child's condition may improve within a few weeks of treatment. If rickets is caused by an inherited disorder or another medical condition, a healthcare provider would determine the appropriate treatment.
Mutations in the AHCY, GNMT, and MAT1A genes cause hypermethioninemia. Inherited hypermethioninemia that is not associated with other metabolic disorders can be caused by shortages (deficiencies) in the enzymes that break down methionine. These enzymes are produced from the MAT1A, GNMT and AHCY genes. The reactions involved in metabolizing methionine help supply some of the amino acids needed for protein production. These reactions are also involved in transferring methyl groups, consisting of a carbon atom and three hydrogen atoms, from one molecule to another (transmethylation), which is important in many cellular processes. The MAT1A gene provides instructions for producing the enzyme methionine adenosyltransferase. This enzyme converts methionine into a compound called S-adenosylmethionine, also known as AdoMet or SAMe. The GNMT gene provides instructions for making the enzyme glycine N-methyltransferase. This enzyme starts the next step in the process, converting AdoMet to a compound called S-adenosyl homocysteine, or AdoHcy. The AHCY gene provides instructions for producing the enzyme S-adenosylhomocysteine hydrolase. This enzyme converts the AdoHcy into the compound homocysteine. Homocysteine may be converted back to methionine or into another amino acid, cysteine. A deficiency of any of these enzymes results in a buildup of methionine in the body, and may cause signs and symptoms related to hypermethioninemia.
The prevalence of congenital sucrase-isomaltase deficiency is estimated to be 1 in 5,000 people of European descent. This condition is much more prevalent in the native populations of Greenland, Alaska, and Canada, where as many as 1 in 20 people may be affected.
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.
Symptoms depend on the type of neuropathy and which nerves are affected. Some people with nerve damage have no symptoms at all. For others, the first symptom is often numbness, tingling, or pain in the feet. Symptoms are often minor at first, and because most nerve damage occurs over several years, mild cases may go unnoticed for a long time. Symptoms can involve the sensory, motor, and autonomicor involuntarynervous systems. In some people, mainly those with focal neuropathy, the onset of pain may be sudden and severe. Symptoms of nerve damage may include - numbness, tingling, or pain in the toes, feet, legs, hands, arms, and fingers - wasting of the muscles of the feet or hands - indigestion, nausea, or vomiting - diarrhea or constipation - dizziness or faintness due to a drop in blood pressure after standing or sitting up - problems with urination - erectile dysfunction in men or vaginal dryness in women - weakness Symptoms that are not due to neuropathy, but often accompany it, include weight loss and depression.
Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis. Initially, most people with primary myelofibrosis have no signs or symptoms. Eventually, fibrosis can lead to a reduction in the number of red blood cells, white blood cells, and platelets. A shortage of red blood cells (anemia) often causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood cells can lead to an increased number of infections, and a reduction of platelets can cause easy bleeding or bruising. Because blood cell formation (hematopoiesis) in the bone marrow is disrupted, other organs such as the spleen or liver may begin to produce blood cells. This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain. Primary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age.
These resources address the diagnosis or management of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome: - Gene Review: Gene Review: MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome - Genetic Testing Registry: Navajo neurohepatopathy - The United Mitochondrial Disease Foundation: Treatments and Therapies 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
The four major types of epidermolysis bullosa simplex can result from mutations in either the KRT5 or KRT14 gene. These genes provide instructions for making proteins called keratin 5 and keratin 14. These tough, fibrous proteins work together to provide strength and resiliency to the outer layer of the skin (the epidermis). Mutations in either the KRT5 or KRT14 gene prevent the keratin proteins from assembling into strong networks, causing cells in the epidermis to become fragile and easily damaged. As a result, the skin is less resistant to friction and minor trauma and blisters easily. In rare cases, no KRT5 or KRT14 gene mutations are identified in people with one of the four major types of epidermolysis bullosa simplex. Mutations in another gene, PLEC, have been associated with the rare Ogna type of epidermolysis bullosa simplex. The PLEC gene provides instructions for making a protein called plectin, which helps attach the epidermis to underlying layers of skin. Researchers are working to determine how PLEC gene mutations lead to the major features of the condition.
Gangrene is the death of tissues in your body. It happens when a part of your body loses its blood supply. Gangrene can happen on the surface of the body, such as on the skin, or inside the body, in muscles or organs. Causes include - Serious injuries - Problems with blood circulation, such as atherosclerosis and peripheral arterial disease - Diabetes Skin symptoms may include a blue or black color, pain, numbness, and sores that produce a foul-smelling discharge. If the gangrene is internal, you may run a fever and feel unwell, and the area may be swollen and painful. Gangrene is a serious condition. It needs immediate attention. Treatment includes surgery, antibiotics, and oxygen therapy. In severe cases an amputation may be necessary.
Summary : Birth weight is the first weight of your baby, taken just after he or she is born. A low birth weight is less than 5.5 pounds. A high birth weight is more than 8.8 pounds. A low birth weight baby can be born too small, too early (premature), or both. This can happen for many different reasons. They include health problems in the mother, genetic factors, problems with the placenta and substance abuse by the mother. Some low birth weight babies may be more at risk for certain health problems. Some may become sick in the first days of life or develop infections. Others may suffer from longer-term problems such as delayed motor and social development or learning disabilities. High birth weight babies are often big because the parents are big, or the mother has diabetes during pregnancy. These babies may be at a higher risk of birth injuries and problems with blood sugar. Centers for Disease Control and Prevention
FIBGC is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of an altered SLC20A2 or PDGFRB gene in each cell is sufficient to cause the disorder. This condition appears to follow an autosomal dominant pattern of inheritance when the genetic cause is not known. In most cases, an affected person has one parent with the condition.
Not always. Some warning signs, such as sleep problems, falls, mood swings, anxiety, depression, and memory problems -- can also be signs of other health conditions. As a result, doctors and family members often do not realize that an older person has a drug problem, and people may not get the help they need.
Most cases of antiphospholipid syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing antiphospholipid syndrome.
Wilson disease is a rare disorder that affects approximately 1 in 30,000 individuals.
Prothrombin deficiency is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases of prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Women with prothrombin deficiency can have prolonged and sometimes abnormally heavy menstrual bleeding. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of prothrombin deficiency do not involve spontaneous bleeding, and the condition may only become apparent following surgery or a serious injury.
The incidence of methemoglobinemia, beta-globin type is unknown.
Some diseases affect the salivary glands. Sjgren's syndrome and diabetes can cause dry mouth. Injury to the head or neck can damage the nerves that tell salivary glands to make saliva.
Coronary heart disease, or CHD, is the most common underlying cause of a heart attack. Coronary arteries are the blood vessels that bring blood and oxygen to the heart muscle. Most heart attacks are caused by a blood clot that blocks one of the coronary arteries. When blood cannot reach part of your heart, that area starves for oxygen. If the blockage continues long enough, cells in the affected area die.
- Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus kidneys. - Symptoms of medullary sponge kidney do not usually appear until the teenage years or the 20s. Medullary sponge kidney can affect one or both kidneys. - Complications of medullary sponge kidney include - hematuria, or blood in the urine - kidney stones - urinary tract infections (UTIs) - Many people with medullary sponge kidney have no symptoms. The first sign that a person has medullary sponge kidney is usually a UTI or a kidney stone. UTIs and kidney stones share many of the same signs and symptoms: - burning or painful urination - pain in the back, lower abdomen, or groin - cloudy, dark, or bloody urine - foul-smelling urine - fever and chills - vomiting - Health care providers commonly choose one or more of three imaging techniques to diagnose medullary sponge kidney: - intravenous pyelogram - computerized tomography (CT) scan - ultrasound - Scientists have not discovered a way to reverse medullary sponge kidney. Once a health care provider is sure a person has medullary sponge kidney, treatment focuses on - curing an existing UTI - removing any kidney stones - Scientists have not yet found a way to prevent medullary sponge kidney. However, health care providers can recommend medications and dietary changes to prevent future UTIs and kidney stones.
Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple fractures in the long bones of the arms and legs, especially in the regions where new bone forms (metaphyses). They also have fractures in the bones that form the spine (vertebrae), which can cause collapse of the affected vertebrae (compressed vertebrae). Multiple fractures can cause bone pain and lead to movement problems.
Jaundice causes your skin and the whites of your eyes to turn yellow. Too much bilirubin causes jaundice. Bilirubin is a yellow chemical in hemoglobin, the substance that carries oxygen in your red blood cells. As red blood cells break down, your body builds new cells to replace them. The old ones are processed by the liver. If the liver cannot handle the blood cells as they break down, bilirubin builds up in the body and your skin may look yellow. Many healthy babies have some jaundice during the first week of life. It usually goes away. However, jaundice can happen at any age and may be a sign of a problem. Jaundice can happen for many reasons, such as - Blood diseases - Genetic syndromes - Liver diseases, such as hepatitis or cirrhosis - Blockage of bile ducts - Infections - Medicines
What are the signs and symptoms of Deafness, autosomal recessive 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal recessive 51. 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 - Sensorineural hearing impairment - 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.
Summary : If you are like many Americans, you drink alcohol at least occasionally. For many people, moderate drinking is probably safe. It may even have health benefits, including reducing your risk of certain heart problems. For most women and for most people over 65, moderate drinking is no more than three drinks a day or seven drinks per week. For men under 65, it is no more than four drinks a day or 14 drinks per week. Some people should not drink at all, including alcoholics, children, pregnant women, people taking certain medicines, and people with certain medical conditions. If you have questions about whether it is safe for you to drink, speak with your health care provider. Anything more than moderate drinking can be risky. Heavy drinking can lead to alcoholism and alcohol abuse, as well as injuries, liver disease, heart disease, cancer, and other health problems. It can also cause problems at home, at work, and with friends. NIH: National Institute on Alcohol Abuse and Alcoholism
Isolated Duane retraction syndrome usually occurs in people with no history of the disorder in their family. These cases are described as simplex, and their genetic cause is unknown. Less commonly, isolated Duane retraction syndrome can run in families. Familial cases most often have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When isolated Duane retraction syndrome is caused by CHN1 mutations, it has an autosomal dominant inheritance pattern. In a few families with isolated Duane retraction syndrome, the pattern of affected family members suggests autosomal recessive inheritance. In these families, one or more children are affected, although the parents typically have no signs or symptoms of the condition. The parents of children with an autosomal recessive condition are called carriers, which means they carry one mutated copy of a gene in each cell. In affected children, both copies of the gene in each cell are mutated. However, researchers have not discovered the gene or genes responsible for autosomal recessive isolated Duane retraction syndrome.
How might limb-girdle muscular dystrophy be treated? Unfortunately, no definitive treatments or effective medications for the limb-girdle muscular dystrophies (LGMDs) currently exist. Management depends on each individual and the specific type of LGMD that the individual has. However, a general approach to managing LGMD has been proposed, based on the typical progression and complications of affected individuals. This approach may include: weight control to avoid obesity; physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the muscles); use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility; monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis; monitoring respiratory function and use of respiratory aids when needed; monitoring for evidence of cardiomyopathy in the types of LGMD with known occurrence of cardiac involvement; and social and emotional support and stimulation to maximize a sense of social involvement and productivity, and to reduce the sense of social isolation common in these disorders.
Clinical Diagnosis Health care providers should consider Cyclospora as a potential cause of prolonged diarrheal illness, particularly in patients with a history of recent travel to Cyclospora-endemic areas. Testing for Cyclospora is not routinely done in most U.S. laboratories, even when stool is tested for parasites. Therefore, if indicated, health care providers should specifically request testing for Cyclospora. More on: Resources for Health Professionals: Diagnosis Laboratory Diagnosis Cyclospora infection is diagnosed by examining stool specimens. Diagnosis can be difficult in part because even persons who are symptomatic might not shed enough oocysts in their stool to be readily detectable by laboratory examinations. Therefore, patients might need to submit several specimens collected on different days. Special techniques, such as acid-fast staining, are often used to make Cyclospora oocysts more visible under the microscope. In addition, Cyclospora oocysts are autofluorescent, meaning that when stool containing the parasite is viewed under an ultraviolet (UV) fluorescence microscope the parasite appears blue or green against a black background. Molecular diagnostic methods, such as polymerase chain reaction (PCR) analysis, are used to look for the parasite's DNA in the stool. More on: Key points for the laboratory diagnosis of cyclosporiasis
These resources address the diagnosis or management of RAPADILINO syndrome: - Genetic Testing Registry: Rapadilino 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
Symptoms of a UTI vary by age, gender, and whether a catheter is present. Among young women, UTI symptoms typically include a frequent and intense urge to urinate and a painful, burning feeling in the bladder or urethra during urination. The amount of urine may be very small. Older women and men are more likely to be tired, shaky, and weak and have muscle aches and abdominal pain. Urine may look cloudy, dark, or bloody or have a foul smell. In a person with a catheter, the only symptom may be fever that cannot be attributed to any other cause. Normally, UTIs do not cause fever if they are in the bladder. A fever may mean the infection has reached the kidneys or has penetrated the prostate. Other symptoms of a kidney infection include pain in the back or side below the ribs, nausea, and vomiting.
Disseminated intravascular coagulation (DIC) is the result of an underlying disease or condition. People who have one or more of the following conditions are most likely to develop DIC: Sepsis (an infection in the bloodstream) Surgery and trauma Cancer Serious complications of pregnancy and childbirth People who are bitten by poisonous snakes (such as rattlesnakes and other vipers), or those who have frostbite or burns, also are at risk for DIC.
Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5. The signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.
Your small intestine does most of the digesting of the foods you eat. If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include - Celiac disease - Lactose intolerance - Short bowel syndrome. This happens after surgery to remove half or more of the small intestine. You might need the surgery if you have a problem with the small intestine from a disease, injury, or birth defect. - Whipple disease, a rare bacterial infection - Genetic diseases - Certain medicines Symptoms of different malabsorption syndromes can vary. They often include chronic diarrhea, abnormal stools, weight loss, and gas. Your doctor may use lab, imaging, or other tests to make a diagnosis. Treatment of malabsorption syndromes depends on the cause.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
A 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.
In the United States, most people with sickle cell disease (SCD) are of African ancestry or identify themselves as black. About 1 in 13 African American babies is born with sickle cell trait. About 1 in every 365 black children is born with sickle cell disease. There are also many people with this disease who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds. Approximately 100,000 Americans have SCD.
What causes congenital radio-ulnar synostosis? Congenital radio-ulnar synostosis is caused by abnormal development of the forearm bones in the fetal period, although the underlying cause of the developmental abnormality is not always known. The condition may be isolated (occur without other abnormalities) or it may be associated with various other skeletal, cardiac (heart), neurologic, or gastrointestinal abnormalities. When other abnormalities are present, the condition may be due to an underlying genetic cause, including a variety of syndromes or chromosome abnormalities. In some cases, congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner. In an article published in 2000, the authors found that autosomal dominant radio-ulnar synostosis with amegakaryocytic thrombocytopenia was caused by mutations in the HOXA11 gene in 2 families.
- Lupus nephritis is kidney inflammation caused by systemic lupus erythematosus (SLE or lupus). - The symptoms of lupus nephritis may include high blood pressure, foamy urine, and edema. - Lupus nephritis is diagnosed through urine and blood tests and a kidney biopsy. - Lupus nephritis is treated with medications that suppress the immune system, so it stops attacking and damaging the kidneys. Standard treatment includes a corticosteroid, usually prednisone, to reduce inflammation in the kidneys. An immunosuppressive medication, such as cyclophosphamide or mycophenolate mofetil, is typically used with prednisone. - People with lupus nephritis that is causing high blood pressure may need to take medications that lower their blood pressure, which can also significantly slow the progression of kidney disease. - In many cases, treatment is effective in completely or partially controlling lupus nephritis, resulting in few, if any, further complications. However, even with treatment, 10 to 30 percent of people with lupus nephritis develop kidney failure.
Like other parts of the body, bones can get infected. The infections are usually bacterial, but can also be fungal. They may spread to the bone from nearby skin or muscles, or from another part of the body through the bloodstream. People who are at risk for bone infections include those with diabetes, poor circulation, or recent injury to the bone. You may also be at risk if you are having hemodialysis. Symptoms of bone infections include - Pain in the infected area - Chills and fever - Swelling, warmth, and redness A blood test or imaging test such as an x-ray can tell if you have a bone infection. Treatment includes antibiotics and often surgery.
The prevalence of lymphedema-distichiasis syndrome is unknown. Because the extra eyelashes can be overlooked during a medical examination, researchers believe that some people with this condition may be misdiagnosed as having lymphedema only.
BRIC is a rare disorder. Although the prevalence is unknown, this condition is less common than the related disorder PFIC, which affects approximately 1 in 50,000 to 100,000 people worldwide.
These resources address the diagnosis or management of CHARGE syndrome: - Gene Review: Gene Review: CHARGE Syndrome - Genetic Testing Registry: CHARGE association - MedlinePlus Encyclopedia: Choanal atresia - MedlinePlus Encyclopedia: Coloboma - MedlinePlus Encyclopedia: Facial Paralysis 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
Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this condition also have skeletal abnormalities such as cone-shaped epiphyses in their fingers and toes and short stature. The range and severity of symptoms may vary from case to case. Transmission of TRPS1 is autosomal dominant, linked to mutations in the TRPS1 gene localized to 8q24.12.
Eating, diet, and nutrition can play a role in causing, preventing, and treating some of the diseases and disorders of the digestive system that are affected by smoking, including heartburn and GERD, liver diseases, Crohns disease, colon polyps, pancreatitis, and gallstones. More information about eating, diet, and nutrition and these conditions can be found on the Digestive Diseases A-Z list.
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 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 altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Complement factor I deficiency is caused by mutations in the CFI gene. This gene provides instructions for making a protein called complement factor I. This protein helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. This system must be carefully regulated so it targets only unwanted materials and does not attack the body's healthy cells. Complement factor I and several related proteins protect healthy cells by preventing activation of the complement system when it is not needed. Mutations in the CFI gene that cause complement factor I deficiency result in abnormal, nonfunctional, or absent complement factor I. The lack (deficiency) of functional complement factor I protein allows uncontrolled activation of the complement system. The unregulated activity of the complement system decreases blood levels of another complement protein called C3, reducing the immune system's ability to fight infections. In addition, the immune system may malfunction and attack its own tissues, resulting in autoimmune disorders.
Studies show that the following risk factors may increase a person's chances of developing colorectal cancer: age, polyps, personal history, family history, and ulcerative colitis.
X-linked spondyloepiphyseal dysplasia tarda is inherited in an X-linked recessive pattern. The TRAPPC2 gene 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 two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. In rare cases, however, females who carry a TRAPPC2 mutation may develop arthritis in early adulthood.
Mutations in the SALL1 gene cause Townes-Brocks Syndrome. The SALL1 gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. Some mutations in the SALL1 gene lead to the production of an abnormally short version of the SALL1 protein that malfunctions within the cell. Other mutations prevent one copy of the gene in each cell from making any protein. It is unclear how these genetic changes disrupt normal development and cause the birth defects associated with Townes-Brocks syndrome.
Andersen-Tawil syndrome is a rare genetic disorder; its incidence is unknown. About 100 people with this condition have been reported worldwide.
Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 percent of affected individuals have Ashkenazi Jewish ancestry.
Summary : Flu is a respiratory infection caused by a number of viruses. Most people with the flu get better on their own. But it can be serious. It can cause complications and sometimes even death. Getting the flu vaccine every year is the best way to lower your chance of getting the flu and spreading it to others. The flu vaccine causes antibodies to develop in your body about two weeks after you get it. These antibodies provide protection against infection with the viruses that are in the vaccine. Flu vaccines can either be shots or nasal sprays. There is also a high-dose version for people 65 and older. Ask your health care provider which one is right for you. Everyone 6 months of age and older should get a flu vaccine every season. People with egg allergies should check with their doctors before getting a vaccine. Other exceptions are people who have - Had reactions to flu shots before - Guillain-Barre Syndrome - A fever Centers for Disease Control and Prevention
The NINDS supports a broad range of research on neural tube defects such as SB aimed at finding ways to treat, prevent, and, ultimately, cure these disorders. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of child-bearing age consume 400 micrograms of folic acid daily.
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 might hypothalamic dysfunction be treated? Treatment is based on the specific cause of the hypothalamic dysfunction. For instance, if the condition is caused by a tumor, radiation and/or surgery may be warranted. If the hypothalamic dysfunction is caused by a hormone deficiency, the condition might be treated with hormone supplementation. If the cause is unknown, treatment may be symptomatic. To date, no successful treatment has been reported for idiopathic hypothalamic dysfunction.
Aicardi-Goutieres syndrome can have different inheritance patterns. In most cases it 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. Rarely, 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. These cases result from new mutations in the gene and occur in people with no history of the disorder in their family.