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A small percentage of all cases of familial atrial fibrillation are associated with changes in the KCNE2, KCNJ2, and KCNQ1 genes. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions) of potassium into and out of cells. In heart (cardiac) muscle, the ion channels produced from the KCNE2, KCNJ2, and KCNQ1 genes play critical roles in maintaining the heart's normal rhythm. Mutations in these genes have been identified in only a few families worldwide. These mutations increase the activity of the channels, which changes the flow of potassium ions between cells. This disruption in ion transport alters the way the heart beats, increasing the risk of syncope, stroke, and sudden death. Most cases of atrial fibrillation are not caused by mutations in a single gene. This condition is often related to structural abnormalities of the heart or underlying heart disease. Additional risk factors for atrial fibrillation include high blood pressure (hypertension), diabetes mellitus, a previous stroke, or an accumulation of fatty deposits and scar-like tissue in the lining of the arteries (atherosclerosis). Although most cases of atrial fibrillation are not known to run in families, studies suggest that they may arise partly from genetic risk factors. Researchers are working to determine which genetic changes may influence the risk of atrial fibrillation.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Sciatica is a symptom of a problem with the sciatic nerve, the largest nerve in the body. It controls muscles in the back of your knee and lower leg and provides feeling to the back of your thigh, part of your lower leg, and the sole of your foot. When you have sciatica, you have pain, weakness, numbness, or tingling. It can start in the lower back and extend down your leg to your calf, foot, or even your toes. It's usually on only one side of your body. Causes of sciatica include - A ruptured intervertebral disk - Narrowing of the spinal canal that puts pressure on the nerve, called spinal stenosis - An injury such as a pelvic fracture. In many cases no cause can be found. Sometimes sciatica goes away on its own. Treatment, if needed, depends on the cause of the problem. It may include exercises, medicines, and surgery.
Within the NINDS research programs, pinched nerves are addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as pinched nerves.
Type I citrullinemia is the most common form of the disorder, affecting about 1 in 57,000 people worldwide. Type II citrullinemia is found primarily in the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 individuals. Type II also has been reported in other populations, including people from East Asia and the Middle East.
Triglycerides are another kind of fat that your liver makes. They can also signal an increased chance of developing heart disease.
Glutaric acidemia type I (GA1) is an inherited disorder in which the body can't process certain proteins properly. People with GA1 have inadequate levels of an enzyme needed to break down certain amino acids. These amino acids and their intermediate breakdown products can accumulate, causing damage to the brain (particularly the basal ganglia, which helps control movement). Specific symptoms and severity vary, but features may include macrocephaly; difficulty moving; having jerking, rigidity, or decreased muscle tone; and/or intellectual disability. GA1 is caused by mutations in the GCDH gene and is inherited in an autosomal recessive manner. Treatment includes strict dietary control, which may limit progression of symptoms.
Juvenile hyaline fibromatosis is a disorder that affects the skin, joints, and bones. Individuals with this condition typically begin to develop signs and symptoms within the first few years of life. Juvenile hyaline fibromatosis is characterized by skin bumps that frequently appear on the hands, neck, scalp, ears, and nose. These skin bumps can also develop in joint creases and the genital region. They vary in size and are sometimes painful. Affected individuals usually develop more skin bumps over time. Juvenile hyaline fibromatosis is also characterized by overgrowth of the gums (gingival hypertrophy) and joint deformities (contractures) that can impair movement. In addition, affected individuals may grow slowly and have bone abnormalities. People with juvenile hyaline fibromatosis typically have severe physical limitations, but most individuals have normal intelligence and live into adulthood.
Talk to your doctor when you first notice symptoms of neuropathy. Certain medications and other approaches, such as physical therapy, may help alleviate symptoms. There are some steps you can take yourself. Pay careful attention to your hands and feet, and check them for wounds. Pay attention when you walk and avoid falls. Avoid extreme heat or cold.
Is ankylosing spondylitis inherited? Although ankylosing spondylitis (AS) can affect more than one person in a family, it is not a purely genetic disease. While genes seem to play a role, the exact cause of AS is not known. It is considered to be multifactorial, which means that multiple genetic and environmental factors likely interact to affect a person's risk to develop AS. Most of these factors have not been identified. Inheriting a genetic variation that has been associated with AS does not mean a person will develop AS. Currently, it is not possible to predict the exact likelihood that the children of an affected person will develop the disease. You can find more information about the genetics of AS from Genetics Home Reference, the U.S National Library of Medicine's Web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue. Onset is in childhood or early adolescence. After recurrent attacks (ranging from days to years in between), swelling may persist and increase, eventually becoming permanent. The lip may become hard, cracked, and fissured with a reddish-brown discoloration. The cause of Melkersson-Rosenthal syndrome is unknown, but there may be a genetic predisposition. It can be symptomatic of Crohn's disease or sarcoidosis.
What causes glycogen storage disease type 13? Glycogen storage disease type 13 (GSD13) is caused by changes (mutations) in the ENO3 gene. Glycogen is a substance that is stored in muscle tissue and is used as an important source of energy for the muscles during movement and exercise. The ENO3 gene makes a chemical called enolase, which is an enzyme that helps the muscles use glycogen for energy. In GSD13, the ENO3 genes do not work properly such that the body cannot make enolase, and as a result, the muscles do not have enough energy to work properly.
Currently, no treatment can stop Alzheimer's disease. However, four medications are used to treat its symptoms. These medicines may help maintain thinking, memory, and speaking skills for a limited time. They work by regulating certain chemicals in the brain. Most of these medicines work best for people in the early or middle stages of the disease. For people with mild or moderate Alzheimer's, donepezil (Aricept), rivastigmine (Exelon), or galantamine (Razadyne) may help. Donepezil is also approved to treat symptoms of moderate to severe Alzheimer's. Another drug, memantine (Namenda), is used to treat symptoms of moderate to severe Alzheimer's, although it also has limited effects. All of these medicines have possible side effects. Learn how Alzheimers medications work, how to take them, and where to find more information. Certain medicines and other approaches can help control the behavioral symptoms of Alzheimer's disease. These symptoms include sleeplessness, agitation, wandering, anxiety, anger, and depression. See more about medications used to treat behavioral symptoms. Some medicines must be used with caution.
What are the signs and symptoms of Stenotrophomonas maltophilia infection? S. maltophilia bacteria usually colonize (live in or on) areas of the body without causing infection. In these cases, people have no signs or symptoms of a bacterial infection. When present, the features of Stenotrophomonas maltophilia (S. maltophilia) infections are generally related to the organ system(s) involved. The most common manifestations are pneumonia and bacteremia. Less commonly, people infected by S. maltophilia may experience endocarditis, mastoiditis, peritonitis, meningitis, soft tissue infections, wound infections, urinary tract infections, and/or eye infections.
What causes hepatocellular carcinoma, childhood? A review of the literature suggests that knowledge regarding the cause of hepatocellular carcinoma in children is lacking due to the rarity of this disease. Children living in regions of the world where heptatitis B virus is common have been reported to have a much greater risk of developing this disease. Chronic infection by hepatitis C virus has also been linked to the development of hepatocellular carcinoma. Hepatocellular carcinoma has also been reported to develop in the presence of liver disease, cirrhosis, and inborn errors of metabolism. In addition, various other reported risk factors for developing hepatocellular carcinoma include: male sex, co-infection with other viral liver disease, co-infection with HIV, alcohol abuse, family history of this carcinoma, increased hepatic iron, increased serum alanine aminotransferase levels, exposure to aflatoxin B1 by food contamination, genetic variants of glutathione S-transferase, and various metabolic liver disorders. Chronic Epstein Barr virus infections have also been suggested to play a role in the development of hepatocellular carcinoma in Asian patients. This association remains to be confirmed in other populations.
How is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency diagnosed? A diagnosis of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include a blood test to measure the concentration of 17-hydroxyprogesterone (17-OHP) and/or an adrenocorticotropic hormone (ACTH) stimulation test. An ACTH stimulation test involves measuring the concentration of 17-OHP in the blood before ACTH is administered and 60 min after ACTH is given.
Treatment for dysgraphia varies and may include treatment for motor disorders to help control writing movements. Other treatments may address impaired memory or other neurological problems. Some physicians recommend that individuals with dysgraphia use computers to avoid the problems of handwriting.
Crohn disease is most common in western Europe and North America, where it affects 100 to 150 in 100,000 people. About one million Americans are currently affected by this disorder. Crohn disease occurs more often in whites and people of eastern and central European (Ashkenazi) Jewish descent than among people of other ethnic backgrounds.
To confirm a diagnosis of gout, the doctor inserts a needle into the inflamed joint and draws a sample of synovial fluid, the substance that lubricates a joint. A laboratory technician places some of the fluid on a slide and looks for uric acid crystals under a microscope. If uric acid crystals are found in the fluid surrounding the joint, the person usually has gout.
Ehlers-Danlos syndrome progeroid type is a genetic disorder of the connective tissue, which is the material between the cells of the body that gives tissues form and strength. The disorder primarily affects the skin, hair, and skeletal system. Symptoms usually show up by childhood or adolescence. Like people with other types of Ehlers-Danlos syndrome, individuals with the progeroid form have unusually flexible joints, loose elastic skin, and easy scarring. Features that are unique to this type include sparse scalp hair and eyebrows, and loose elastic skin on the face; these features cause affected individuals to look older than their age. Additional symptoms may include bone weakness, weak muscle tone, mild intellectual disability, and delayed growth in affected children. The progeroid type of Ehlers-Danlos syndrome is caused by mutations in the B4GALT7 gene and is inherited in an autosomal recessive pattern.
Most cases of congenital hypothyroidism are sporadic, which means they occur in people with no history of the disorder in their family. When inherited, the condition usually has an autosomal recessive inheritance pattern, which means both copies of the gene in each cell have mutations. Typically, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition. When congenital hypothyroidism results from mutations in the PAX8 gene or from certain mutations in the TSHR or DUOX2 gene, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these cases, an affected person inherits the mutation from one affected parent. Other cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
The prognosis for individuals with apraxia varies and depends partly on the underlying cause. Some individuals improve significantly while others may show very little improvement.
Currently, there is no cure for SSPE. Clinical trials of antiviral (isoprinosine and ribavirin) and immunomodulatory (interferon alpha) drugs have suggested that these types of therapies given alone or in combination halt the progression of the disease and can prolong life, but their long-term effects on individuals, and eventual outcome, are unknown. Good nursing care is the most important aspect of treatment for SSPE, along with anticonvulsant and antispasmodic drugs when needed.
Key Points - Chronic myelomonocytic leukemia is a disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow. - Older age and being male increase the risk of chronic myelomonocytic leukemia. - Signs and symptoms of chronic myelomonocytic leukemia include fever, weight loss, and feeling very tired. - Certain factors affect prognosis (chance of recovery) and treatment options. Chronic myelomonocytic leukemia is a disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow. In chronic myelomonocytic leukemia (CMML), the body tells too many blood stem cells to become two types of white blood cells called myelocytes and monocytes. Some of these blood stem cells never become mature white blood cells. These immature white blood cells are called blasts. Over time, the myelocytes, monocytes, and blasts crowd out the red blood cells and platelets in the bone marrow. When this happens, infection, anemia, or easy bleeding may occur.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Lactose intolerance means that you cannot digest foods with lactose in them. Lactose is the sugar found in milk and foods made with milk. After eating foods with lactose in them, you may feel sick to your stomach. You may also have - Gas - Diarrhea - Swelling in your stomach Your doctor may do a blood, breath or stool test to find out if your problems are due to lactose intolerance. Lactose intolerance is not serious. Eating less food with lactose, or using pills or drops to help you digest lactose usually helps. You may need to take a calcium supplement if you don't get enough of it from your diet, since milk and foods made with milk are the most common source of calcium for most people. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Over time, Paget's disease may lead to other medical conditions, including arthritis, headaches, hearing loss, and nervous system problems, depending on which bones are affected. On very rare occasions, Paget's disease is associated with the development of osteosarcoma, a type of bone cancer. Less than one percent of patients have this complication.
Fish-eye disease is a rare disorder. Approximately 30 cases have been reported in the medical literature.
How do people inherit dentinogenesis imperfecta? Dentinogenesis imperfecta is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
The prevalence of polycythemia vera varies worldwide. The condition affects an estimated 44 to 57 per 100,000 individuals in the United States. For unknown reasons, men develop polycythemia vera more frequently than women.
What causes Wilson disease? Wilson disease is caused by changes (mutations) in the ATP7B gene. This gene encodes a protein that plays an important role in the transport of copper from the liver to the rest of the body. It also helps remove excess copper from the body. Mutations in the ATP7B gene prevent this protein from working properly, which can lead to an accumulation of copper in the body. Because high levels of copper are toxic, this buildup can damage tissues and organs and cause the many signs and symptoms of Wilson disease.
When you cough, mucus (a slimy substance) may come up. Coughing helps clear the mucus in your airways from a cold, bronchitis, or other condition. Rarely, people cough up blood. If this happens, you should call your doctor right away. A cough may be a symptom of a medical condition. Thus, it may occur with other signs and symptoms of that condition. For example, if you have a cold, you may have a runny or stuffy nose. If you have gastroesophageal reflux disease, you may have a sour taste in your mouth. A chronic cough can make you feel tired because you use a lot of energy to cough. It also can prevent you from sleeping well and interfere with work and socializing. A chronic cough also can cause headaches, chest pain, loss of bladder control, sweating, and, rarely, fractured ribs.
Health history can affect the risk of testicular cancer. Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for testicular cancer include: - Having had an undescended testicle. - Having had abnormal development of the testicles. - Having a personal history of testicular cancer. - Having a family history of testicular cancer (especially in a father or brother). - Being white. Treatment for testicular cancer can cause infertility. Certain treatments for testicular cancer can cause infertility that may be permanent. Patients who may wish to have children should consider sperm banking before having treatment. Sperm banking is the process of freezing sperm and storing it for later use.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
This condition is inherited in an autosomal dominant pattern, which means a genetic rearrangement involving one copy of the CYP19A1 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new genetic changes and occur in people with no history of the disorder in their family.
When you are ready to have your baby, you'll go through labor. Contractions let you know labor is starting. When contractions are five minutes apart, your body is ready to push the baby out. During the first stage of labor, your cervix slowly opens, or dilates, to about 4 inches wide. At the same time, it becomes thinner. This is called effacement. You shouldn't push until your uterus is fully effaced and dilated. When it is, the baby delivery stage starts. Crowning is when your baby's scalp comes into view. Shortly afterward, your baby is born. The placenta that nourished the baby follows. Mothers and babies are monitored closely during labor. Most women are healthy enough to have a baby through normal vaginal delivery, meaning that the baby comes down the birth canal without surgery. If there are complications, the baby may need to be delivered surgically by a Cesarean section. Dept. of Health and Human Services Office on Women's Health
What causes hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is caused by a mutation in the TUBB4A gene. The mutation usually occurs for the first time in a family as a result of a new mutation in the affected individual. The mutation is rarely inherited from a parent.
Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes is a disorder of metabolism the way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose, a form of sugar that enters the bloodstream. With the help of the hormone insulin, cells throughout the body absorb glucose and use it for energy. Insulin is made in the pancreas, an organ located behind the stomach and below the liver. As blood glucose levels rise after a meal, the pancreas is triggered to release insulin. The pancreas contains clusters of cells called pancreatic islets. Beta cells within the pancreatic islets make insulin and release it into the blood. Diabetes develops when the body doesnt make enough insulin, is not able to use insulin effectively, or both. As a result, glucose builds up in the blood instead of being absorbed by cells in the body. The bodys cells are then starved of energy despite high blood glucose levels.
Testicular cancer is the most common cancer in men aged 15 to 34 years. Testicular cancer is very rare, but it is the most common cancer found in men between the ages of 15 and 34. White men are four times more likely than black men to have testicular cancer
Microscopic polyangiitis (MPA) is a disorder that causes blood vessel inflammation (vasculitis), which can lead to organ damage. The kidneys, lungs, nerves, skin, and joints are the most commonly affected areas of the body. MPA is diagnosed in people of all ages, all ethnicities, and both genders. The cause of this disorder is unknown.
What are the signs and symptoms of Preauricular sinus? The Human Phenotype Ontology provides the following list of signs and symptoms for Preauricular sinus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Preauricular pit - 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.
What are the signs and symptoms of Ambras syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ambras syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Congenital, generalized hypertrichosis - 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.
SYNGAP1-related intellectual disability is classified as an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In at least one case, an affected person inherited the mutation from one affected parent.
Nail-patella syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the LMX1B gene. These cases occur in people with no history of the disorder in their family.
Although NASH has become more common, its underlying cause is still not clear. It most often occurs in persons who are middle-aged and overweight or obese. Many patients with NASH have elevated blood lipids, such as cholesterol and triglycerides, and many have diabetes or prediabetes, but not every obese person or every patient with diabetes has NASH. Furthermore, some patients with NASH are not obese, do not have diabetes, and have normal blood cholesterol and lipids. NASH can occur without any apparent risk factor and can even occur in children. Thus, NASH is not simply obesity that affects the liver. While the underlying reason for the liver injury that causes NASH is not known, several factors are possible candidates: - insulin resistance - release of toxic inflammatory proteins by fat cells (cytokines) - oxidative stress (deterioration of cells) inside liver cells
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
A miscarriage is the loss of pregnancy from natural causes before the 20th week of pregnancy. Most miscarriages occur very early in the pregnancy, often before a woman even knows she is pregnant. There are many different causes for a miscarriage. In most cases, there is nothing you can do to prevent a miscarriage. Factors that may contribute to miscarriage include - A genetic problem with the fetus. This is the most common cause in the first trimester. - Problems with the uterus or cervix. These contribute in the second trimester. - Polycystic ovary syndrome Signs of a miscarriage can include vaginal spotting or bleeding, abdominal pain or cramping, and fluid or tissue passing from the vagina. Although vaginal bleeding is a common symptom of miscarriage, many women have spotting early in their pregnancy but do not miscarry. But if you are pregnant and have bleeding or spotting, contact your health care provider immediately. Women who miscarry early in their pregnancy usually do not need any treatment. In some cases, you may need a procedure called a dilatation and curettage (D&C) to remove tissue remaining in the uterus. Counseling may help you cope with your grief. Later, if you do decide to try again, work closely with your health care provider to lower the risks. Many women who have a miscarriage go on to have healthy babies. NIH: National Institute of Child Health and Human Development
How is schistosomiasis diagnosed? Examination of stool and/or urine for ova is the primary method of diagnosis for schistosomiasis. The choice of sample depends on the suspected species, which may be determined by careful review of travel and residence history. The sensitivity of this testing can be limited by the intensity of infection. For best results, three samples should be collected on different days. A blood sample can also be tested for evidence of infection. Blood tests are indicated for travelers or immigrants from endemic areas who have not been treated (or not treated appropriately) in the past. The most common tests detect antibodies to the adult worm. For accurate results, the blood sample tested should be collected at least 6 to 8 weeks after likely infection. Blood testing may not be appropriate for patients who have been repeatedly infected and treated in the past because antibodies can persist despite cure. In these patients, blood testing cannot distinguish between a past or current infection. A specific blood test has been developed for this population (which can detect an active infection based on the presence of schistosomal antigen), but this test is not commercially available in the United States and is currently being studied for its ability to detect mild infections.
Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Adult height ranges from 42 inches to 58 inches. Affected individuals have abnormally large joints that can cause pain and restrict movement, limiting physical activity. These joint problems can also lead to arthritis. Other skeletal features may include a rounded upper back that also curves to the side (kyphoscoliosis), severely flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the arms and legs, long and knobby fingers, and an inward- and upward-turning foot (clubfoot). Individuals with Kniest dysplasia have a round, flat face with bulging and wide-set eyes. Some affected infants are born with an opening in the roof of the mouth called a cleft palate. Infants may also have breathing problems due to weakness of the windpipe. Severe nearsightedness (myopia) and other eye problems are common in Kniest dysplasia. Some eye problems, such as tearing of the back lining of the eye (retinal detachment), can lead to blindness. Hearing loss resulting from recurrent ear infections is also possible.
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females (who have two X chromosomes). Females with a mutation in one copy of the AR gene in each cell are typically unaffected. A few females with mutations in both copies of the gene have had mild features related to the condition, including muscle cramps and occasional tremors. Researchers believe that the milder signs and symptoms in females may be related to lower androgen levels. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
These resources address the diagnosis or management of Smith-Lemli-Opitz syndrome: - Gene Review: Gene Review: Smith-Lemli-Opitz Syndrome - Genetic Testing Registry: Smith-Lemli-Opitz syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Bladder cancer is a disease in which certain cells in the bladder become abnormal and multiply without control or order. The bladder is a hollow, muscular organ in the lower abdomen that stores urine until it is ready to be excreted from the body. The most common type of bladder cancer begins in cells lining the inside of the bladder and is called transitional cell carcinoma (TCC). Bladder cancer may cause blood in the urine, pain during urination, frequent urination, or the feeling that one needs to urinate without results. These signs and symptoms are not specific to bladder cancer, however. They also can be caused by noncancerous conditions such as infections.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Oculopharyngeal muscular dystrophy (OPMD) is a genetic muscle disorder with onset during adulthood, most often between 40 and 60 years of age. This condition is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. There are two types of OPMD, which are distinguished by their patterns of inheritance. They are known as the autosomal dominant and autosomal recessive types. Both types are caused by mutations in the PABPN1 gene.
You can try several things that might help prevent or relieve lymphedema. - Watch for signs of swelling or infection (redness, pain, heat, and fever). Tell your health care provider if your arm or leg is painful or swollen. - Avoid getting cuts, insect bites, or sunburn in the affected area. - Keep your skin clean and use lotion to keep it moist. - Wear loose-fitting clothing on your arms or legs. Watch for signs of swelling or infection (redness, pain, heat, and fever). Tell your health care provider if your arm or leg is painful or swollen. Avoid getting cuts, insect bites, or sunburn in the affected area. Keep your skin clean and use lotion to keep it moist. Wear loose-fitting clothing on your arms or legs.
Lymphomatoid papulosis is a skin disorder that is characterized by crops of self healing skin lesions that look cancerous under the microscope but are actually benign (non-cancerous). Lesions contain unusual cells that are similar to those found in some lymphomas (cancers of the lymphatic system).
What causes Arts syndrome? Arts syndrome is caused by mutations in the PRPS1 gene. This gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, the building blocks of DNA, RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. The PRPS1 mutations that cause Arts syndrome replace one protein building block (amino acid) with another amino acid in the PRPP synthetase 1 enzyme. The resulting enzyme is likely unstable, compromising its ability to perform its normal function. The disruption of purine and pyrimidine production may impair energy storage and transport in cells. Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system and the immune system, resulting in the neurological problems and immune dysfunction characteristic of Arts syndrome.
How might familial atrial fibrillation be treated? We are unaware of treatment recommendations specific to familial atrial fibrillation, but there is information available about treatment for atrial fibrillation in general. Treatment for atrial fibrillation depends on the frequency and severity of symptoms and may involve medications, medical procedures, and lifestyle changes. People who don't have symptoms or related heart problems may not need treatment. The main goals of treatment include: Preventing blot clots and lowering risk of stroke. This may involve blood-thinning medications such as warfarin, dabigatran, heparin, and aspirin. Controlling the rate of contractions of the ventricles (rate control). This may involve medications to restore the heart rate to a normal level, such as beta blockers, calcium channel blockers, and digitalis. Restoring a normal heart rhythm (rhythm control). This is typically for people who don't do well with rate control treatment, or for people who recently began having symptoms. Rhythm control may involve medications or procedures and is usually begun in a hospital for monitoring. Procedures may include cardioversion, catheter ablation, or maze surgery.
Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have problems with night vision, and some have problems with color vision. The signs and symptoms of Stargardt disease typically appear in late childhood to early adulthood and worsen over time. It is most commonly caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner. Rarely it may be caused by mutations in other genes and inherited in an autosomal dominant manner. There is currently no treatment, but various services and devices can help affected people carry out daily activities and maintain their independence.
Menopause is the time in a woman's life when her period stops. It usually occurs naturally, most often after age 45. Menopause happens because the woman's ovaries stop producing the hormones estrogen and progesterone. A woman has reached menopause when she has not had a period for one year. Changes and symptoms can start several years earlier. They include - A change in periods - shorter or longer, lighter or heavier, with more or less time in between - Hot flashes and/or night sweats - Trouble sleeping - Vaginal dryness - Mood swings - Trouble focusing - Less hair on head, more on face Some symptoms require treatment. Talk to your doctor about how to best manage menopause. Make sure the doctor knows your medical history and your family medical history. This includes whether you are at risk for heart disease, osteoporosis, or breast cancer. Dept. of Health and Human Services Office on Women's Health
Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). The COL2A1 gene is essential for the normal development of bones and other tissues that form the body's supportive framework (connective tissues). Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.
The worldwide incidence of glycine encephalopathy is unknown. Its frequency has been studied in only a few regions: this condition affects about 1 in 55,000 newborns in Finland and about 1 in 63,000 newborns in British Columbia, Canada.
Peyronies disease is a disorder in which scar tissue, called a plaque, forms in the penisthe male organ used for urination and sex. The plaque builds up inside the tissues of a thick, elastic membrane called the tunica albuginea. The most common area for the plaque is on the top or bottom of the penis. As the plaque builds up, the penis will curve or bend, which can cause painful erections. Curves in the penis can make sexual intercourse painful, difficult, or impossible. Peyronies disease begins with inflammation, or swelling, which can become a hard scar. The plaque that develops in Peyronies disease is not the same plaque that can develop in a persons arteries. The plaque seen in Peyronies disease is benign, or noncancerous, and is not a tumor. Peyronies disease is not contagious or caused by any known transmittable disease. Early researchers thought Peyronies disease was a form of impotence, now called erectile dysfunction (ED). ED happens when a man is unable to achieve or keep an erection firm enough for sexual intercourse. Some men with Peyronies disease may have ED. Usually men with Peyronies disease are referred to a urologista doctor who specializes in sexual and urinary problems.
Recovery depends upon how quickly treatment is received and how severely the body is compromised. Paralysis may persist for many weeks or be permanent. Most individuals have a good chance of recovery.
NINDS is the leading supporter of research on stroke and TIA in the U.S. and sponsors studies ranging from clinical trials to investigations of basic biological mechanisms as well as studies with animals.
The incidence of this condition is uncertain, but researchers estimate that the disorder affects 1 in 40,000 to 50,000 people.
Most cases of Moebius syndrome are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a single clear pattern of inheritance.
What are the signs and symptoms of Hypochromic microcytic anemia with iron overload? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochromic microcytic anemia with iron overload. If the information is available, the table below includes how often the symptom is seen in people with 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 - Abnormality of the liver - Anemia - Autosomal recessive 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.
Generally treatment for individuals with BSS focuses on the underlying cause of the disorder. Early treatment with high-dose steroids may be beneficial in many cases. Other treatment is symptomatic and supportive.
How is factor V Leiden inherited? Factor V Leiden is a genetic condition and can be inherited from a parent. It is important to understand that each person inherits two copies of every gene, one from their mother and the other copy from their father. Individuals who inherit one copy of the factor V Leiden mutation from a parent are called heterozygotes. Heterozygotes have a 50% chance with each pregnancy of passing the mutated gene to their offspring (and therefore they also have a 50% chance of having a child who does not inherit the gene mutation). People who inherit two copies of the mutation, one from each parent, are called homozygotes. Homozygotes will always pass one copy of the mutated gene to their offspring. If both parents are heterozygotes (carry one factor V Leiden mutation) than they would have a 25% chance of having a child with two factor V Leiden mutations, a 25% chance of having a child with no mutations, and a 50% chance of having a child with one mutation.
The prevalence of ADCY5-related dyskinesia is unknown. At least 50 affected individuals have been described in the medical literature.
Familial stomach cancer is a cluster of stomach cancer within a family. Most cases of stomach cancer occur sporadically in people with little to no family history of the condition; however, approximately 10% of stomach cancer is considered "familial." Although the underlying cause of some familial cases is unknown, genetic changes (mutations) are identified in a subset of people affected by gastric cancer. Hereditary cancer syndromes associated with a predisposition to gastric cancer include hereditary diffuse gastric cancer, Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis, and Peutz-Jeghers syndrome. In other families, the cluster of stomach cancers may be due to a combination of gene(s) and/or other shared factors such as environment and lifestyle. Depending on the estimated risk, high-risk cancer screening and/or prophylactic surgeries are typically recommended in people who have an increased risk for stomach cancer based on their personal and/or family histories.
How is disseminated peritoneal leiomyomatosis (DPL) diagnosed? An ultrasound may reveal the presence of nodules (lumps) which may indicate disseminated peritoneal leiomyomatosis (DPL). However, DPL can only be confirmed by a biopsy of the nodule. The nodules should contain smooth muscle cells with no atypia (no abnormal structure) or necrosis (dead cells). The cells usually have both progesterone and estrogen receptors, but this is not always the case. The cells usually have a low mitotic index (meaning they are not dividing at a high rate).
Tetanus is a serious illness caused by Clostridium bacteria. The bacteria live in soil, saliva, dust, and manure. The bacteria can enter the body through a deep cut, like those you might get from stepping on a nail, or through a burn. The infection causes painful tightening of the muscles, usually all over the body. It can lead to "locking" of the jaw. This makes it impossible to open your mouth or swallow. Tetanus is a medical emergency. You need to get treatment in a hospital. A vaccine can prevent tetanus. It is given as a part of routine childhood immunization. Adults should get a tetanus shot, or booster, every 10 years. If you get a bad cut or burn, see your doctor - you may need a booster. Immediate and proper wound care can prevent tetanus infection.
SLC4A1-associated distal renal tubular acidosis can have different patterns of inheritance. It is usually inherited in an autosomal dominant pattern, which means one copy of the altered SLC4A1 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Less commonly, SLC4A1-associated distal renal tubular acidosis has an autosomal recessive pattern of inheritance, which means a mutation must occur in both copies of the SLC4A1 gene for the condition to develop. This pattern occurs with certain types of SLC4A1 gene 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.
Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. It is similar to Prader-Willi syndrome, but the authors concluded that it is a different condition. The cause was unknown in the reported cases.
Craniofacial-deafness-hand syndrome is caused by mutations in the PAX3 gene. The PAX3 gene plays a critical role in the formation of tissues and organs during embryonic development. To perform this function, the gene provides instructions for making a protein that attaches (binds) to specific areas of DNA to help control the activity of particular genes. During embryonic development, the PAX3 gene is active in cells called neural crest cells. These cells migrate from the developing spinal cord to specific regions in the embryo. The protein produced from the PAX3 gene directs the activity of other genes that signal neural crest cells to form specialized tissues or cell types. These include some nerve tissues, bones in the face and skull (craniofacial bones), and muscle tissue. At least one PAX3 gene mutation has been identified in individuals with craniofacial-deafness-hand syndrome. This mutation appears to affect the ability of the PAX3 protein to bind to DNA. As a result, the PAX3 protein cannot control the activity of other genes and cannot regulate the differentiation of neural crest cells. A lack of specialization of neural crest cells leads to the impaired growth of craniofacial bones, nerve tissue, and muscles seen in craniofacial-deafness-hand syndrome.
National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov Association for Macular Diseases 210 East 64th Street, 8th Floor New York, NY 10021-7471 212-605-3719 Foundation Fighting Blindness Executive Plaza 1, Suite 800 11435 Cronhill Drive Owings Mill, MD 21117-2220 1-888-394-3937 410-785-1414 Macular Degeneration Partnership 6222 Wilshire Boulevard, Suite 260 Los Angeles, CA 90048 1-888-430-9898 310-623-4466 www.amd.org
These resources address the diagnosis or management of Crohn disease: - Genetic Testing Registry: Inflammatory bowel disease 1 - MedlinePlus Encyclopedia: Crohn's disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
You can prevent asbestos-related lung diseases by limiting your exposure to asbestos fibers. If your job requires you to work around asbestos, make sure to follow workplace rules for handling it. For example, make sure that air levels are measured, and wear a proper respirator to avoid breathing in asbestos fibers. If you live in a house or work in a building that has pipes or other products containing asbestos, you generally dont need to take special precautions. Being around products that contain asbestos isnt a danger, as long as the asbestos is enclosed. This prevents the fibers from getting into the air. If you smoke, quit. Smoking greatly increases your risk of lung cancer if you have pleural plaque, pleural effusion, or asbestosis. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. For more information about how to quit smoking, go to the Diseases and Conditions Index Smoking and Your Heart article and the National Heart, Lung, and Blood Institutes Your Guide to a Healthy Heart. Although these resources focus on heart health, they include general information about how to quit smoking.
Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis). People affected by this condition may experience a headache and fever for up to 5 days, followed by personality and behavioral changes; seizures; hallucinations; and altered levels of consciousness. Without early diagnosis and treatment, severe brain damage or even death may occur. Herpes simplex encephalitis is caused by a virus called the herpes simplex virus. Most cases are associated with herpes simplex virus type I (the cause of cold sores or fever blisters), although rare cases can be caused by herpes simplex virus type II (genital herpes). It is poorly understood why some people who are infected with herpes simplex virus develop herpes simplex encephalitis while others do not. Changes (mutations) in genes such as TLR3 and TRAF3 have been observed suggesting there may be a genetic component in some cases. Treatment consists of antiviral therapy.
How might pachydermoperiostosis be treated? Treatment for pachydermoperiostosis mainly focuses on the specific signs and symptoms present in each individual. Bone and joint pain may be treated with nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids or colchicine. A vagotomy, a surgical procedure in which certain branches of the vagus nerve are cut, may in some instances improve joint pain and swelling. Skin-related symptoms may be treated with retinoids. Plastic surgery may be performed to improve facial appearance in some individuals. Surgery may also be performed to treat clubbing of fingers and/or toes.
How might dihydropyrimidine dehydrogenase deficiency be treated in infants and children? Currently, no treatment or cure exists for the inborn error of metabolism form of DHD deficiency. Symptoms usually remain the same throughout the person's life.
Congenital mirror movement disorder is a very rare disorder. Its prevalence is thought to be less than 1 in 1 million. Researchers suggest that some mildly affected individuals may never be diagnosed.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
The prevalence of systemic scleroderma is estimated to range from 50 to 300 cases per 1 million people. For reasons that are unknown, women are four times more likely to develop the condition than men.
GRN-related frontotemporal dementia affects an estimated 3 to 15 per 100,000 people aged 45 to 64. This condition accounts for 5 to 10 percent of all cases of frontotemporal dementia.
How is CREST syndrome diagnosed? CREST syndrome can be difficult to diagnose. Signs and symptoms vary widely and often resemble those of other connective tissue and autoimmune diseases. Further complicating matters is that limited scleroderma sometimes occurs with other autoimmune conditions such as polymyositis, lupus and rheumatoid arthritis. A blood sample can be tested for antibodies that are frequently found in the blood of people with limited scleroderma. But this isn't a definitive test because not everyone with limited scleroderma has these antibodies. Sometimes doctors take a small sample of skin that's then examined under a microscope in a laboratory. Biopsies can be helpful, but they can't definitively diagnose limited scleroderma either. Along with a blood test and skin biopsy, additional tests to identify lung, heart or gastrointestinal complications may also be conducted.
The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. It usually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans.
Hairy cell leukemia is a rare, slow-growing cancer of the blood in which the bone marrow makes too many B cells (lymphocytes), a type of white blood cell that fights infection. The condition is named after these excess B cells which look 'hairy' under a microscope. As the number of leukemia cells increases, fewer healthy white blood cells, red blood cells and platelets are produced. The underlying cause of this condition is unknown. While there is no cure, treatment can lead to remission which can last for years.
Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.
How is Gardner-Diamond syndrome diagnosed? There are no specific laboratory tests that can confirm the diagnosis of Gardner-Diamond syndrome (GDS), but various tests may be used to rule out other conditions. The diagnosis may be considered based on the presence of symptoms, when all other causes of bleeding have been ruled out (including the use or misuse of various medications that may be associated with bleeding). A detailed psychiatric evaluation is of huge importance if GDS is suspected, with information concerning how the person has responded to major stressful events in his or her life (such as fetal losses, death in the family, divorce, loss of income). While the underlying cause of GDS is unknown, an abnormal psychiatric history is virtually always present.
Xeroderma pigmentosum is a rare disorder; it is estimated to affect about 1 in 1 million people in the United States and Europe. The condition is more common in Japan, North Africa, and the Middle East.
These resources address the diagnosis or management of hyperkalemic periodic paralysis: - Gene Review: Gene Review: Hyperkalemic Periodic Paralysis - Genetic Testing Registry: Familial hyperkalemic periodic paralysis - Genetic Testing Registry: Hyperkalemic Periodic Paralysis Type 1 - MedlinePlus Encyclopedia: Hyperkalemic Periodic Paralysis - Periodic Paralysis International: How is Periodic Paralysis Diagnosed? 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
Most cases of retroperitoneal fibrosis are sporadic, which means that they occur in people with no apparent history of the disorder in their family. In rare cases, the condition has been reported to occur in a few members of the same family, but the inheritance pattern is unknown.
The incidence of X-linked myotubular myopathy is estimated to be 1 in 50,000 newborn males worldwide.
Summary : A stroke can cause lasting brain damage. People who survive a stroke need to relearn skills they lose because of the damage. Rehabilitation can help them relearn those skills. Stroke can cause five types of disabilities: - Paralysis or problems controlling movement - Pain and other problems with the senses - Problems using or understanding language - Problems with thinking and memory - Emotional disturbances Stroke rehabilitation involves many kinds of health professionals. The goal is to help survivors become as independent as possible and to have the best possible quality of life. NIH: National Institute of Neurological Disorders and Stroke
Mutations in the ACADVL gene cause VLCAD deficiency. This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called very long-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the ACADVL gene lead to a shortage (deficiency) of the VLCAD enzyme within cells. Without sufficient amounts of this enzyme, very long-chain fatty acids are not metabolized properly. As a result, these fats are not converted to energy, which can lead to the characteristic signs and symptoms of this disorder such as lethargy and hypoglycemia. Very long-chain fatty acids or partially metabolized fatty acids may also build up in tissues and damage the heart, liver, and muscles. This abnormal buildup causes the other signs and symptoms of VLCAD deficiency.
Behet disease is most common in Mediterranean countries, the Middle East, Japan, and other parts of Asia. However, it has been found in populations worldwide. The highest prevalence of Behet disease has been reported in Turkey, where the disorder affects up to 420 in 100,000 people. The disorder is much less common in northern European countries and the United States, where it generally affects fewer than 1 in 100,000 people.
Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin C is an antioxidant. It is important for your skin, bones, and connective tissue. It promotes healing and helps the body absorb iron. Vitamin C comes from fruits and vegetables. Good sources include citrus, red and green peppers, tomatoes, broccoli, and greens. Some juices and cereals have added vitamin C. Some people may need extra vitamin C: - Pregnant/breastfeeding women - Smokers - People recovering from surgery - Burn victims