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Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin D helps your body absorb calcium. Calcium is one of the main building blocks of bone. A lack of vitamin D can lead to bone diseases such as osteoporosis or rickets. Vitamin D also has a role in your nerve, muscle, and immune systems. You can get vitamin D in three ways: through your skin, from your diet, and from supplements. Your body forms vitamin D naturally after exposure to sunlight. However, too much sun exposure can lead to skin aging and skin cancer. So many people try to get their vitamin D from other sources. Vitamin D-rich foods include egg yolks, saltwater fish, and liver. Some other foods, like milk and cereal, often have added vitamin D. You can also take vitamin D supplements. Check with your health care provider to see how much you should take. People who might need extra vitamin D include - Seniors - Breastfed infants - People with dark skin - People with certain conditions, such as liver diseases, cystic fibrosis and Crohn's disease - People who are obese or have had gastric bypass surgery NIH: National Institutes of Health Office of Dietary Supplements
The prognosis for persons with hypersomnia depends on the cause of the disorder. While the disorder itself is not life threatening, it can have serious consequences, such as automobile accidents caused by falling asleep while driving. The attacks usually continue indefinitely.
These resources address the diagnosis or management of Alagille syndrome: - Boston Children's Hospital - Children's Hospital of Philadelphia - Children's Hospital of Pittsburgh - Gene Review: Gene Review: Alagille Syndrome - Genetic Testing Registry: Alagille syndrome 1 - Genetic Testing Registry: Arteriohepatic dysplasia - MedlinePlus Encyclopedia: Tetralogy of Fallot 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
Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). CRMO causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. CDA involves a shortage of red blood cells which can lead to fatigue (tiredness), weakness, pale skin, and shortness of breath. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. Majeed syndrome results from mutations in the LPIN2 gene. This condition is inherited in an autosomal recessive pattern.
Primary carnitine deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive disorder are carriers, which means they each carry one copy of the mutated gene. Carriers of SLC22A5 gene mutations may have some signs and symptoms related to the condition.
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.
Most people diagnosed with gastroparesis have idiopathic gastroparesis, which means a health care provider cannot identify the cause, even with medical tests. Diabetes is the most common known cause of gastroparesis. People with diabetes have high levels of blood glucose, also called blood sugar. Over time, high blood glucose levels can damage the vagus nerve. Other identifiable causes of gastroparesis include intestinal surgery and nervous system diseases such as Parkinsons disease or multiple sclerosis. For reasons that are still unclear, gastroparesis is more commonly found in women than in men.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What happens when citrullinemia type I is not treated? Untreated individuals with the severe form of citrullinemia type I have hyperammonemia (plasma ammonia concentration 1000-3000 mol/L). Without prompt intervention, hyperammonemia and the accumulation of other toxic metabolites result in swelling of the brain, breathing problems, increased or decreased muscle tone, muscle weakness, problems staying warm, seizures, loss of consciousness, and sometimes death. Without treatment, most babies die within the first few weeks of life.
The NINDS supports a broad program of research to better understand congenital seizure disorders. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as Sturge-Weber syndrome.
What causes acute intermittent porphyria (AIP)? AIP is caused by the deficiency of an enzyme called porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMBS) and formerly known as uroporphyrinogen I-synthase. The deficiency of PBGD is caused by a mutation in the HMBS gene. The HMBS gene is the only gene known to be associated with AIP. However, the deficiency of PBGD alone is not enough to cause AIP. Other activating factors (e.g., hormones, drugs, dietary changes) must also be present.
How might Klebsiella infections be treated? The treatment of Klebsiella infections can be complicated since some Klebsiella bacteria are resistant to certain types of antibiotics. Once a person is diagnosed with one of these infections, a healthcare provider will usually order specialized laboratory testing (susceptibility testing) to determine which antibiotics may be used to treat the Klebsiella infection. If the healthcare provider prescribes an antibiotic, it is important to take the medication exactly as instructed and to continue taking the prescribed course, even if symptoms are gone. If treatment stops too soon, some bacteria may survive and the person may become re-infected.
Cancer of the colon or rectum is called colorectal cancer. The colon and the rectum are part of the large intestine, which is part of the digestive system. Colorectal cancer occurs when malignant tumors form in the lining of the large intestine, also called the large bowel.
Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free. Unlike other types of glutaric acidemia, this type is caused by a peroxisomal rather than a mitochondrial dysfunction. Mutations in the C7ORF10 gene on chromosome 7p14 have been identified in some people with glutaric acidemia type III and the condition follows an autosomal recessive pattern of inheritance. Treatment with riboflavin has been helpful in some patients.
Is tracheobronchopathia osteoplastica inherited? There is no known genetic susceptibility to the development of TO, and it typically occurs in people with no known history of the condition in their family. Familial occurrence has been reported only once, in a woman and her daughter.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. The remaining cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
Medicare Advantage Plans, sometimes known as Medicare Part C, are plans people can join to get their Medicare benefits. Medicare Advantage Plans are available in many areas of the country, and a person who joins one of these plans will get all Medicare-covered benefits. These plans cover hospital costs (Part A), medical costs (Part B), and sometimes prescription drug costs (Part D). Medicare Advantage Plans may also offer extra coverage, such as vision, hearing, dental, and/or health and wellness programs. Medicare Advantage Plans are managed by private insurance companies approved by Medicare. To join a Medicare Advantage Plan, a person must have Medicare Part A and Part B and must pay the monthly Medicare Part B premium to Medicare. In addition, it might be necessary to pay a monthly premium to the Medicare Advantage Plan for the extra benefits that they offer. In most of these plans, there are generally extra benefits and lower co-payments than in Original Medicare. (See Question #6 for information about Original Medicare.) However, a person may have to see doctors that belong to the plan or go to certain hospitals to get services. A person can switch plans each year in the fall if desired. To find out what Medicare Advantage Plans are available in your area, visit http://www.medicare.gov and choose the link Compare Health Plans and Medigap Policies in Your Area to use the Medicare Options Compare tool, or call 1-800-MEDICARE (1-800-633-4227).
Mutations in the RB1 gene are responsible for most cases of retinoblastoma. RB1 is a tumor suppressor gene, which means that it normally regulates cell growth and keeps cells from dividing too rapidly or in an uncontrolled way. Most mutations in the RB1 gene prevent it from making any functional protein, so it is unable to regulate cell division effectively. As a result, certain cells in the retina can divide uncontrollably to form a cancerous tumor. Some studies suggest that additional genetic changes can influence the development of retinoblastoma; these changes may help explain variations in the development and growth of tumors in different people. A small percentage of retinoblastomas are caused by deletions in the region of chromosome 13 that contains the RB1 gene. Because these chromosomal changes involve several genes in addition to RB1, affected children usually also have intellectual disability, slow growth, and distinctive facial features (such as prominent eyebrows, a short nose with a broad nasal bridge, and ear abnormalities).
Prothrombin thrombophilia is caused by a particular mutation in the F2 gene. The F2 gene plays a critical role in the formation of blood clots in response to injury. The protein produced from the F2 gene, prothrombin (also called coagulation factor II), is the precursor to a protein called thrombin that initiates a series of chemical reactions in order to form a blood clot. The particular mutation that causes prothrombin thrombophilia results in an overactive F2 gene that causes too much prothrombin to be produced. An abundance of prothrombin leads to more thrombin, which promotes the formation of blood clots. Other factors also increase the risk of blood clots in people with prothrombin thrombophilia. These factors include increasing age, obesity, trauma, surgery, smoking, the use of oral contraceptives (birth control pills) or hormone replacement therapy, and pregnancy. The combination of prothrombin thrombophilia and mutations in other genes involved in blood clotting can also influence risk.
Is hemophagocytic lymphohistiocytosis inherited? Hemophagocytic lymphohistiocytosis (HLH) may be inherited or acquired (due to non-genetic factors). Familial HLH is inherited in an autosomal recessive manner. This means that to be affected, a person must have a change (mutation) in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Acquired HLH is not inherited. The non-genetic causes of HLH include: infection, medications that suppress the immune system, autoimmune diseases, immunodeficiencies, certain types of cancer and/or metabolic diseases.
What causes Stenotrophomonas maltophilia infection? Stenotrophomonas maltophilia (S. maltophilia) infections are caused by the S. maltophilia bacteria. These bacteria live in various aquatic (water-based) environments. In a hospital setting, they are able to survive and multiply in fluids such as respiratory secretions, urine, and intravenous (IV) fluids. Most healthy people do not get S. maltophilia infections. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to these infections, especially those with severely impaired immune systems. Factors that increase the risk for S. maltophilia infection include admission to an intensive care unit, prolonged hospitalization, HIV infection, cancer, cystic fibrosis, neutropenia, recent surgery, trauma, mechanical ventilation, and previous therapy with broad-spectrum antibiotics (medications that target a wide range of bacteria).
Treatment and prevention for P.A.D. often includes making long-lasting lifestyle changes, such as - quitting smoking - lowering blood pressure - lowering high blood cholesterol levels - lowering high blood glucose levels if you have diabetes - getting regular physical activity - following a healthy eating plan that's low in total fat, saturated fat, trans fat, cholesterol, and sodium (salt). quitting smoking lowering blood pressure lowering high blood cholesterol levels lowering high blood glucose levels if you have diabetes getting regular physical activity following a healthy eating plan that's low in total fat, saturated fat, trans fat, cholesterol, and sodium (salt). Two examples of healthy eating plans are Therapeutic Lifestyle Changes (TLC) and Dietary Approaches to Stop Hypertension (DASH).
Rabies is a deadly animal disease caused by a virus. It can happen in wild animals, including raccoons, skunks, bats and foxes, or in dogs, cats or farm animals. People get it from the bite of an infected animal. In people, symptoms of rabies include fever, headache and fatigue, then confusion, hallucinations and paralysis. Once the symptoms begin, the disease is usually fatal. A series of shots can prevent rabies in people exposed to the virus. You need to get them right away. If an animal bites you, wash the wound well; then get medical care. To help prevent rabies - Vaccinate your pet. Rabies vaccines are available for dogs, cats and farm animals - Don't let pets roam - Don't approach stray animals. Animals with rabies might be aggressive and vicious, or tired and weak Centers for Disease Control and Prevention
There are two major types of lung cancer -- non-small cell lung cancer and small cell lung cancer. Each type of lung cancer grows and spreads in different ways, and each is treated differently. Non-small cell lung cancer is more common than small cell lung cancer. It generally grows and spreads slowly. Learn more about non-small cell carcinoma. Small cell lung cancer, sometimes called oat cell cancer, grows more quickly and is more likely to spread to other organs in the body. Learn more about small cell carcinoma.
Carotid artery disease seems to start when damage occurs to the inner layers of the carotid arteries. Major factors that contribute to damage include: Smoking High levels of certain fats and cholesterol in the blood High blood pressure High levels of sugar in the blood due to insulin resistance or diabetes When damage occurs, your body starts a healing process. The healing may cause plaque to build up where the arteries are damaged. The plaque in an artery can crack or rupture. If this happens, blood cell fragments called platelets will stick to the site of the injury and may clump together to form blood clots. The buildup of plaque or blood clots can severely narrow or block the carotid arteries. This limits the flow of oxygen-rich blood to your brain, which can cause a stroke.
Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping. Other signs and symptoms of hereditary hyperekplexia can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs while asleep. Some infants, when tapped on the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants with hereditary hyperekplexia experience recurrent seizures (epilepsy). The signs and symptoms of hereditary hyperekplexia typically fade by age 1. However, older individuals with hereditary hyperekplexia may still startle easily and have periods of rigidity, which can cause them to fall down. Some individuals with this condition have a low tolerance for crowded places and loud noises. Some affected people have persistent limb movements during sleep. Affected individuals who have epilepsy have the disorder throughout their lives.
These resources address the diagnosis or management of Paget disease of bone: - Genetic Testing Registry: Osteitis deformans - Genetic Testing Registry: Paget disease of bone 4 - Genetic Testing Registry: Paget disease of bone, familial - MedlinePlus Encyclopedia: Paget's Disease of the Bone These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of congenital mirror movement disorder: - Gene Review: Gene Review: Congenital Mirror Movements - Genetic Testing Registry: Mirror movements 2 - Genetic Testing Registry: Mirror movements, congenital - KidsHealth: Occupational Therapy 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
Human T-cell leukemia virus, type 1 (HTLV-1) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, some affected people may later develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions. HTLV-1 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. There is no cure or treatment for HTLV-1 and it is considered a lifelong condition; however, most (95%) infected people remain asymptomatic (show no symptoms) throughout life.
These resources address the diagnosis or management of preeclampsia: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Preeclampsia, Eclampsia, and HELLP syndrome? - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What Are the Treatments for Preeclampsia, Eclampsia, and HELLP Syndrome? - Genetic Testing Registry: Preeclampsia/eclampsia 1 - Genetic Testing Registry: Preeclampsia/eclampsia 2 - Genetic Testing Registry: Preeclampsia/eclampsia 3 - Genetic Testing Registry: Preeclampsia/eclampsia 4 - Genetic Testing Registry: Preeclampsia/eclampsia 5 - MedlinePlus Encyclopedia: Preeclampsia Self-care 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
Heart failure is more common in - people who are 65 years old or older - African-Americans - people who are overweight - people who have had a heart attack - men. people who are 65 years old or older African-Americans people who are overweight people who have had a heart attack men. Aging can weaken the heart muscle. Older people also may have had diseases for many years that led to heart failure. African Americans are more likely to have heart failure than people of other races. They're also more likely to have symptoms at a younger age, have more hospital visits due to heart failure, and die from heart failure. Excess weight puts strain on the heart. Being overweight also increases your risk of heart disease and type 2 diabetes. These diseases can lead to heart failure. A history of a heart attack puts people at greater risk for heart failure. Men have a higher rate of heart failure than women.
Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). Affected individuals typically have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakened heart muscle (cardiomyopathy). Many infants with CACT deficiency do not survive the newborn period. Some affected individuals have a less severe form of the condition and do not develop signs and symptoms until early childhood. These individuals are at risk for liver failure, nervous system damage, coma, and sudden death.
Abnormal blood pressure is higher than 120/80 mmHg. If either your systolic or diastolic blood pressure is higher than normal (120/80) but not high enough to be considered high blood pressure (140/90), you have pre-hypertension. Pre-hypertension is a top number between 120 and 139 or a bottom number between 80 and 89 mmHg. For example, blood pressure readings of 138/82, 128/70, or 115/86 are all in the "pre-hypertension" range. (Click the table on the right to see the stages of high blood pressure in adults.) The ranges in the table are blood pressure guides for adults who do not have any short-term serious illnesses. People with diabetes or chronic kidney disease should keep their blood pressure below 130/80 mmHg.
Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair. While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included. Fatigue is reported in at least 50% of patients. Some cases have been associated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.
What are the signs and symptoms of osteochondritis dissecans? The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the cartilage and bone travel into the joint space: Pain, swelling and/or tenderness Joint popping Joint weakness Decreased range of motion Although osteochondritis dissecans can develop in any joint of the body, the knee, ankle and elbow are most commonly affected. Most people only develop the condition in a single joint.
What are the signs and symptoms of subacute cerebellar degeneration? Signs and symptoms of subacute cerebellar degeneration, include ataxia, speech and swallowing problems, dementia (in about half of people with this condition), and difficulty walking. People with subacute cerebellar degeneration due to thiamine deficiency may also experience quick involuntary movements of the eyeball (nystagmus), double-vision, dizziness, and paralysis of the eye muscles. In paraneoplastic cerebellar degeneration, dizziness, nausea, and vomiting may precede the neurological symptoms. Paraneoplastic cerebellar degeneration may occur in association with Lambert Eaton myasthenic syndrome or encephalomyelitis.
What treatment is available for for myotonic dystrophy? There is currently no cure or specific treatment for myotonic dystrophy. Treatment is aimed at managing symptoms and minimizing disability. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain. Canes, braces, walkers and scooters can help as muscle weakness progresses. There are also medications that can lessen the myotonia. Pain management can be achieved through the use of mexilitene, gabapentin, nonsteroidal anti-inflammatory drugs (NSAIDS), low-dose thyroid replacement, low-dose steroids (prednisone), and tricyclic antidepressants. Other symptoms of myotonic dystrophy can also be treated. Heart problems should be followed by a cardiologist, but may be managed through insertion of a pacemaker and regular monitoring of cardiac function. Cataracts can be surgically corrected.
MTHFR gene mutation is a genetic change that disrupts the production of an enzyme that plays an important role in breaking down the amino acid homocysteine (a building block of protein). These mutations may cause a mild to severe loss of activity of this enzyme that can lead to elevated levels of homocysteine in the blood and/or urine. Some rare MTHFR gene mutations severely impair the function of this enzyme and lead to homocystinuria, an autosomal recessive condition characterized by various health problems including abnormal clotting and neurological problems (developmental delay, seizures, intellectual disability and microcephaly). Common MTHFR gene mutations (such as C677T and A1298C) lead to a milder reduction in enzyme function. People with two copies of C677T or one copy of C677T and one copy of A1298C may have an increased risk for cardiovascular conditions such as coronary artery disease, blood clots, and stroke. Many people who inherit these mutations never develop one of the associated conditions.
These resources address the diagnosis or management of spinocerebellar ataxia type 36: - Ataxia Center at the University of Minnesota: Dominant Spinocerebellar Ataxias - Baylor College of Medicine: Parkinson's Disease Center and Movement Disorders Clinic: Ataxia - Gene Review: Gene Review: Spinocerebellar Ataxia Type 36 - Genetic Testing Registry: Spinocerebellar ataxia 36 - Johns Hopkins Medicine: Ataxia - The Ataxia Center at the University of Chicago: Autosomal Dominant Spinocerebellar Ataxia 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
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.
Certain factors affect prognosis (chance of recovery) and treatment options. Prognosis (chance of recovery) depends on the following: - The stage of the disease. - The location and size of the tumor. - The grade of the tumor. - The patient's age, gender, and general health, including whether the patient is anemic. Treatment options depend on the following: - The stage of the disease. - The location and size of the tumor. - Keeping the patient's ability to talk, eat, and breathe as normal as possible. - Whether the cancer has come back (recurred). Smoking tobacco and drinking alcohol decrease the effectiveness of treatment for laryngeal cancer. Patients with laryngeal cancer who continue to smoke and drink are less likely to be cured and more likely to develop a second tumor. After treatment for laryngeal cancer, frequent and careful follow-up is important.
What causes multiple endocrine neoplasia, type 1? Multiple endocrine neoplasia, type 1 (MEN1) is caused by mutations in the MEN1 gene. MEN1 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Changes (mutations) in MEN1 result in a defective protein that is unable to carry out its normal role. This leads to the development of the many different types of tumors found in MEN1.
What symptoms may be associated with hereditary cerebral hemorrhage with amyloidosis - Dutch type? Approximately 87% of individuals with hereditary cerebral hemorrhage with amyloidosis - Dutch type have intracranial hemorrhage (bleeding in the brain) and 13% have infarcts (stroke). The first stroke usually occurs between the ages of 45 and 65 years, and is not caused by hypertension or hemorrhagic diathesis (bleeding tendency). Nausea, vomiting, progressive headache, focal neurological signs (double or decreased vision, speech difficulties, confusion, delirium, weakness or paralysis, sensation changes or loss of sensation, progressive intellectual deterioration and memory disturbance) and impairment of consciousness are the most frequent signs and symptoms. Psychiatric abnormalities, including dementia are also common, with some patients developing dementia without intracranial hemorrhage.
Cleidocranial dysplasia occurs in approximately 1 per million individuals worldwide.
Summary : A biopsy is a procedure that removes cells or tissue from your body. A doctor called a pathologist looks at the cells or tissue under a microscope to check for damage or disease. The pathologist may also do other tests on it. Biopsies can be done on all parts of the body. In most cases, a biopsy is the only test that can tell for sure if a suspicious area is cancer. But biopsies are performed for many other reasons too. There are different types of biopsies. A needle biopsy removes tissue with a needle passed through your skin to the site of the problem. Other kinds of biopsies may require surgery.
The prevalence of Baller-Gerold syndrome is unknown, but this rare condition probably affects fewer than 1 per million people. Fewer than 40 cases have been reported in the medical literature.
Familial hemophagocytic lymphohistiocytosis occurs in approximately 1 in 50,000 individuals worldwide.
What causes adiposis dolorosa? The exact cause of adiposis dolorosa remains unknown. While possible causes have been suggested, none have been confirmed. These include long-term treatment with high-dose corticosteroids; endocrine system abnormalities; and changes in fatty acid or carbohydrate metabolism. Researchers have also suggested that it could be an autoimmune disorder. Because the condition has rarely occurred in more than one person within a family, it may have a genetic component. However, no specific gene known to be associated with the condition has been identified. It is unknown why adiposis dolorosa usually occurs in people who are overweight or obese, or why the signs and symptoms do not appear until mid-adulthood.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - Whether the patient has HPV infection of the oropharynx. - Whether the patient has a history of smoking cigarettes for ten or more pack years. - The stage of the cancer. - The number and size of lymph nodes with cancer. Oropharyngeal tumors related to HPV infection have a better prognosis and are less likely to recur than tumors not linked to HPV infection. Treatment options depend on the following: - The stage of the cancer. - Keeping the patient's ability to speak and swallow as normal as possible. - The patient's general health. Patients with oropharyngeal cancer have an increased risk of another cancer in the head or neck. This risk is increased in patients who continue to smoke or drink alcohol after treatment. See the PDQ summary Cigarette Smoking: Health Risks and How to Quit for more information.
CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (congenital). Other bone and joint abnormalities can include an inward- and upward-turning foot (clubfoot), a limited range of motion in large joints, and abnormal curvature of the spine. The features of CHST3-related skeletal dysplasia are usually limited to the bones and joints; however, minor heart defects have been reported in a few affected individuals. Researchers have not settled on a preferred name for this condition. It is sometimes known as autosomal recessive Larsen syndrome based on its similarity to another skeletal disorder called Larsen syndrome. Other names that have been used to describe the condition include spondyloepiphyseal dysplasia, Omani type; humero-spinal dysostosis; and chondrodysplasia with multiple dislocations. Recently, researchers have proposed the umbrella term CHST3-related skeletal dysplasia to refer to bone and joint abnormalities resulting from mutations in the CHST3 gene.
The National Cancer Institute's Cancer Information Service (CIS) provides personalized answers to questions about many aspects of cancer, including symptoms, diagnosis, treatment, and survivorship issues. Contact CIS by calling 1-800-4-CANCER (1-800-422-6237) or for TTY users, 1-800-332-8615. You can also contact CIS over the Internet at http://cis.nci.nih.gov or by sending an email to cancergovstaff@mail.nih.gov.
Treatment with corticosteroids such as prednisone is standard, although serious side effects can occur. Several newer antiepileptic medications, such as topiramate may ease some symptoms. Vigabatrin (Sabril) has been approved by the U.S. Food and Drug Administration to treat infantile spasms in children ages one month to two years. Some children have spasms as the result of brain lesions, and surgical removal of these lesions may result in improvement.
Misdiagnosis of head lice infestation is common. The diagnosis of head lice infestation is best made by finding a live nymph or adult louse on the scalp or hair of a person. Because adult and nymph lice are very small, move quickly, and avoid light, they may be difficult to find. Use of a fine-toothed louse comb may facilitate identification of live lice. If crawling lice are not seen, finding nits attached firmly within ¼ inch of the base of hair shafts suggests, but does not confirm, the person is infested. Nits frequently are seen on hair behind the ears and near the back of the neck. Nits that are attached more than ¼ inch from the base of the hair shaft are almost always non-viable (hatched or dead). Head lice and nits can be visible with the naked eye, although use of a magnifying lens may be necessary to find crawling lice or to identify a developing nymph inside a viable nit. Nits are often confused with other particles found in hair such as dandruff, hair spray droplets, and dirt particles. If no nymphs or adults are seen, and the only nits found are more than ¼ inch from the scalp, then the infestation is probably old and no longer active — and does not need to be treated.
Mutations in the KCNH2, KCNJ2, and KCNQ1 genes can cause short QT syndrome. These genes provide instructions for making channels that transport positively charged atoms (ions) of potassium out of cells. In cardiac muscle, these ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in the KCNH2, KCNJ2, or KCNQ1 gene increase the activity of the channels, which enhances the flow of potassium ions across the membrane of cardiac muscle cells. This change in ion transport alters the electrical activity of the heart and can lead to the abnormal heart rhythms characteristic of short QT syndrome. Some affected individuals do not have an identified mutation in the KCNH2, KCNJ2, or KCNQ1 gene. Changes in other genes that have not been identified may cause the disorder in these cases.
These resources address the diagnosis or management of factor V deficiency: - Genetic Testing Registry: Factor V deficiency - MedlinePlus Encyclopedia: Factor V Deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Lattice corneal dystrophy type II is a rare condition; however, the prevalence is unknown. While this condition can be found in populations worldwide, it was first described in Finland and is more common there.
In children, the risk of kidney damage leading to long-term problems may be as high as 15 percent, but kidney failure affects only about 1 percent of children with HSP.1 Up to 40 percent of adults with HSP will have CKD or kidney failure within 15 years after diagnosis.3 A rare complication of HSP is intussusception of the bowel, which includes the small and large intestines. With this condition, a section of the bowel folds into itself like a telescope, causing the bowel to become blocked. Women with a history of HSP who become pregnant are at higher risk for high blood pressure and proteinuria during pregnancy.
Researchers believe that migraine is the result of fundamental neurological abnormalities caused by genetic mutations at work in the brain. New models are aiding scientists in studying the basic science involved in the biological cascade, genetic components and mechanisms of migraine. Understanding the causes of migraine as well as the events that effect them will give researchers the opportunity to develop and test drugs that could be more targeted to preventing or interrupting attacks entirely. Therapies currently being tested for their effectiveness in treating migraine include magnesium, coenzyme Q10, vitamin B12, riboflavin, fever-few, and butterbur. In 2010, a team of researchers found a common mutation in the gene TRESK which contains instructions for a certain potassium ion channel. Potassium channels are important for keeping a nerve cell at rest and mutations in them can lead to overactive cells that respond to much lower levels of pain. Large genetic analyses similar to the one used to identify TRESK will most likely lead to the identification of a number of other genes linked to migraine.
What treatment is available for limb-girdle muscular dystrophy? There is no specific treatment for limb-girdle muscular dystrophy. Management of the condition is based on the person's symptoms and subtype (if known). The GeneReview article on limb-girdle muscular dystrophy lists the following approach for medical management of the condition: Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures 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 of respiratory function and use of respiratory aids when indicated Monitoring for evidence of cardiomyopathy in those subtypes with known occurrence of cardiac involvement 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
What causes oculopharyngeal muscular dystrophy? Oculopharyngeal muscular dystrophy (OPMD) is caused by mutations in the PABPN1 gene. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. The protein acts to protect the mRNA from being broken down and allows it to move within the cell. Mutations in the PABPN1 gene that cause OPMD result in a PABPN1 protein that forms clumps within muscle cells, and hence they cannot be broken down. These clumps are thought to impair the normal function of muscle cells and eventually cause cells to die. The progressive loss of muscle cells most likely causes the muscle weakness seen in people with OPMD. It is not known why abnormal PABPN1 proteins seem to affect muscle cells in only certain parts of the body.
VACTERL association occurs in 1 in 10,000 to 40,000 newborns.
Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth. The bones of affected individuals do not develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray images. In addition, the bones have abnormal calcium deposits (ectopic calcification). Affected individuals have extremely short bones in the arms and legs and abnormally flat vertebrae (platyspondyly). Other skeletal abnormalities may include short ribs and extra fingers (polydactyly). In addition, affected fetuses have extensive swelling of the body caused by fluid accumulation (hydrops fetalis). Greenberg dysplasia is also called hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), which reflects the condition's most common features.
What are the signs and symptoms of Gupta Patton syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gupta Patton 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) Anotia - Aplasia/Hypoplasia of the middle ear - Autosomal recessive inheritance - Conductive hearing impairment - Facial asymmetry - Microtia - Wide mouth - 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.
There are four types of headache: vascular, muscle contraction (tension), traction, and inflammatory. Vascular headaches include "cluster headaches, which cause repeated episodes of intense pain, and headaches resulting from high blood pressure,and toxic headache produced by fever. Muscle contraction headaches appear to involve the tightening or tensing of facial and neck muscles. Traction and inflammatory headaches are symptoms of other disorders, ranging from stroke to sinus infection. Like other types of pain, headaches can serve as warning signals of more serious disorders. This is particularly true for headaches caused by inflammation, including those related to meningitis as well as those resulting from diseases of the sinuses, spine, neck, ears, and teeth. The most common type of primary headache (not caused by another medical condition) is migraine. Migraine headaches are usually characterized by severe pain on one or both sides of the head, an upset stomach, and, at times, disturbed vision. Women are more likely than men to have migraine headaches.
These resources address the diagnosis or management of distal hereditary motor neuropathy, type II: - Genetic Testing Registry: Distal hereditary motor neuronopathy type 2A - Genetic Testing Registry: Distal hereditary motor neuronopathy type 2B - MedlinePlus Encyclopedia: Weakness 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
Medications may be used with treatment that includes scaling and root planing. Depending on how far the disease has progressed, the dentist or periodontist may also suggest surgical treatment. Long-term studies are needed to find out if using medications reduces the need for surgery and whether they are effective over a long period of time.
Summary : In the early 1980s, when the HIV/AIDS epidemic began, patients rarely lived longer than a few years. But today, there are many effective medicines to fight the infection, and people with HIV have longer, healthier lives. There are five major types of medicines: - Reverse transcriptase (RT) inhibitors - interfere with a critical step during the HIV life cycle and keep the virus from making copies of itself - Protease inhibitors - interfere with a protein that HIV uses to make infectious viral particles - Fusion inhibitors - block the virus from entering the body's cells - Integrase inhibitors - block an enzyme HIV needs to make copies of itself - Multidrug combinations - combine two or more different types of drugs into one These medicines help people with HIV, but they are not perfect. They do not cure HIV/AIDS. People with HIV infection still have the virus in their bodies. They can still spread HIV to others through unprotected sex and needle sharing, even when they are taking their medicines. NIH: National Institute of Allergy and Infectious Diseases
These resources address the diagnosis or management of giant axonal neuropathy: - Gene Review: Gene Review: Giant Axonal Neuropathy - Genetic Testing Registry: Giant axonal neuropathy 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
SJS/TEN is not an inherited condition. However, the genetic changes that increase the risk of developing SJS/TEN can be passed from one generation to the next.
Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
Most people with CML have a gene mutation (change) called the Philadelphia chromosome. Every cell in the body contains DNA (genetic material) that determines how the cell looks and acts. DNA is contained inside chromosomes. In CML, part of the DNA from one chromosome moves to another chromosome. This change is called the Philadelphia chromosome. It results in the bone marrow making an enzyme, called tyrosine kinase, that causes too many stem cells to become white blood cells (granulocytes or blasts). The Philadelphia chromosome is not passed from parent to child.
The occurrence of PKU varies among ethnic groups and geographic regions worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns. Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. As a result, the severe signs and symptoms of classic PKU are rarely seen.
Clinical trials are part of clinical research and at the heart of all treatment advances. Clinical trials look at new ways to prevent, detect, or treat disease. The National Institute of Mental Health at NIH supports research studies on mental health and disorders. To learn how clinical trials work, see Participating in Clinical Trials. To see NIH-funded studies currently recruiting participants in anxiety disorders, visit www.ClinicalTrials.gov and type in "anxiety disorders." Clinical Trials.gov is the NIH/National Library of Medicine's registry of federally and privately funded clinical trials for all disease. To see personal stories of people who have volunteered for clinical trials, visit NIH Clinical Trials Research and You.
Taking action to control risk factors can help prevent or delay heart disease in people who have diabetes and in those who don't. Your risk of heart disease increases with the number of risk factors you have. One step you can take is to adopt a healthy lifestyle. A healthy lifestyle should be part of a lifelong approach to healthy living. A healthy lifestyle includes: Following a healthy diet Maintaining a healthy weight Being physically active Quitting smoking Managing stress You also should know your family history of diabetes and heart disease. If you or someone in your family has diabetes, heart disease, or both, let your doctor know. Your doctor may prescribe medicines to control certain risk factors, such as high blood pressure and high blood cholesterol. Take all of your medicines exactly as your doctor advises. People who have diabetes also need good blood sugar control. Controlling your blood sugar level is good for heart health. Ask your doctor about the best ways to control your blood sugar level. For more information about lifestyle changes and medicines, go to "How Is Diabetic Heart Disease Treated?"
How might glioblastoma be treated? Unfortunately, there is no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy. The best treatment options for each person depend on many factors including the size and location of the tumor; the extent to which the tumor has grown into the surrounding normal brain tissues; and the affected person's age and overall health. Glioblastoma is often treated with surgery initially to remove as much of the tumor as possible. In most cases, it is not possible to remove the entire tumor so additional treatment with radiation therapy and/or chemotherapy is necessary. In elderly people or people in whom surgery is not an option, radiation therapy and/or chemotherapy may be used.
HDL1, HDL2, and HDL4 are 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. As the mutation responsible for HDL2 or HDL4 is passed down from one generation to the next, the length of the repeated DNA segment may increase. A longer repeat segment is often associated with more severe signs and symptoms that appear earlier in life. This phenomenon is known as anticipation. HDL3 is probably 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 do not show signs and symptoms of the condition.
Angiostrongylus cantonensis Prevention of A. cantonensis infections involves educating persons residing in or traveling to areas where the parasite is found about not ingesting raw or undercooked snails and slugs, freshwater shrimp, land crabs, frogs, and monitor lizards, or potentially contaminated vegetables, or vegetable juice. Removing snails, slugs, and rats found near houses and gardens should also help reduce risk. Thoroughly washing hands and utensils after preparing raw snails or slugs is also recommended. Vegetables should be thoroughly washed if eaten raw. Angiostrongylus costaricensis Prevention of A. costaricensis infections involves educating persons residing in and traveling to areas where the parasite is known to be found about not ingesting raw or undercooked slugs or potentially contaminated vegetables or vegetable juices. Removing slugs and rats found near houses and gardens should help reduce risk. Thoroughly washing hands and utensils after preparing raw slugs is also recommended. Vegetables should be thoroughly washed if eaten raw.
How might aplasia cutis congenita be treated? The management of aplasia cutis congenita of the scalp is controversial.; both surgical and conservative treatment modalities have their proponents and opponents. The decision to use medical, surgical, or both forms of therapy in aplasia cutis congenita depends primarily on the size, depth, and location of the skin defect. Local therapy includes gentle cleansing and the application of bland ointment or silver sulfadiazine ointment to keep the area moist. Antibiotics may be utilized if overt signs of infection are noted. In many cases, other treatment is not necessary because the erosions and the ulcerations almost always heal on their own. Recently, a variety of specialized dressing materials have been developed and used. Surgical repair is not usually indicated if the defect is small. Recovery is generally uneventful, with gradual epithelialization and formation of a hairless, atrophic scar over several weeks. Small underlying bony defects usually close spontaneously during the first year of life. Surgical repair of large or multiple scalp defects may require excision with primary closure, if feasible, or the use of tissue expanders and rotation of a flap to fill the defect. On occasion, skin and bone grafts may also be required.
The prevalence of MECP2 duplication syndrome is unknown; approximately 120 affected individuals have been reported in the scientific literature. It is estimated that this condition is responsible for 1 to 2 percent of all cases of intellectual disability caused by changes in the X chromosome.
Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.
Is there treatment for hypotrichosis simplex? Is there hope for hair growth in the future? Individuals with hypotrichosis simplex experience a gradual loss of scalp hair that begins during the middle of the first decade and results in almost complete loss of hair by the third decade. A few sparse, fine, short hairs may remain in some individuals. There is currently no treatment for hypotrichosis simplex.
The NINDS supports and conducts research on brain diseases. Much of this research is aimed at characterizing the agents that cause these disorders, clarifying the mechanisms underlying them, and, ultimately, finding ways to prevent, treat, and cure them.
Paralysis is the loss of muscle function in part of your body. It happens when something goes wrong with the way messages pass between your brain and muscles. Paralysis can be complete or partial. It can occur on one or both sides of your body. It can also occur in just one area, or it can be widespread. Paralysis of the lower half of your body, including both legs, is called paraplegia. Paralysis of the arms and legs is quadriplegia. Most paralysis is due to strokes or injuries such as spinal cord injury or a broken neck. Other causes of paralysis include - Nerve diseases such as amyotrophic lateral sclerosis - Autoimmune diseases such as Guillain-Barre syndrome - Bell's palsy, which affects muscles in the face Polio used to be a cause of paralysis, but polio no longer occurs in the U.S.
The exact prevalence of hereditary hyperekplexia is unknown. This condition has been identified in more than 70 families worldwide.
Miller-Dieker syndrome appears to be a rare disorder, although its prevalence is unknown.
Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon after birth or, in some cases, before birth. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions. Most babies with this condition are born prematurely and may have a temporary, potentially toxic, increase in lactic acid in the blood (lactic acidosis). Additionally, some infants have a slow heart rate and a lack of oxygen during delivery (fetal distress). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxal 5'-phosphate-dependent epilepsy. Instead, individuals with this type of epilepsy are medically treated with large daily doses of pyridoxal 5'-phosphate (a form of vitamin B6). If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy), which can lead to death. Even though seizures can be controlled with pyridoxal 5'-phosphate, neurological problems such as developmental delay and learning disorders may still occur.
Atrial fibrillation (AF) occurs if the heart's electrical signals don't travel through the heart in a normal way. Instead, they become very rapid and disorganized. Damage to the heart's electrical system causes AF. The damage most often is the result of other conditions that affect the health of the heart, such as high blood pressure and coronary heart disease. The risk of AF increases as you age. Inflammation also is thought to play a role in causing AF. Sometimes, the cause of AF is unknown.
Summary : Vitamins are substances that your body needs to grow and develop normally. There are 13 vitamins your body needs. They are - Vitamin A - B vitamins (thiamine, riboflavin, niacin, pantothenic acid, biotin, vitamin B-6, vitamin B-12 and folate) - Vitamin C - Vitamin D - Vitamin E - Vitamin K You can usually get all your vitamins from the foods you eat. Your body can also make vitamins D and K. People who eat a vegetarian diet may need to take a vitamin B12 supplement. Each vitamin has specific jobs. If you have low levels of certain vitamins, you may get health problems. For example, if you don't get enough vitamin C, you could become anemic. Some vitamins may help prevent medical problems. Vitamin A prevents night blindness. The best way to get enough vitamins is to eat a balanced diet with a variety of foods. In some cases, you may need to take vitamin supplements. It's a good idea to ask your health care provider first. High doses of some vitamins can cause problems.
How is Bethlem myopathy inherited? Bethlem myopathy is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. IN some cases, an affected person inherits the mutation from one affected parent. In rare cases, the condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
These resources address the diagnosis or management of keratitis-ichthyosis-deafness syndrome: - Genetic Testing Registry: Autosomal recessive keratitis-ichthyosis-deafness syndrome - Genetic Testing Registry: Keratitis-ichthyosis-deafness syndrome, autosomal dominant 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
Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.
In symptomatic people, babesiosis usually is diagnosed by examining blood specimens under a microscope and seeing Babesia parasites inside red blood cells. To be sure the diagnosis is correct, your health care provider might have specimens of your blood tested by a specialized reference laboratory (such as at CDC or a health department). More on: Resources for Health Professionals: Diagnosis
Summary : Carbohydrates are one of the main types of nutrients. They are the most important source of energy for your body. Your digestive system changes carbohydrates into glucose (blood sugar). Your body uses this sugar for energy for your cells, tissues and organs. It stores any extra sugar in your liver and muscles for when it is needed. Carbohydrates are called simple or complex, depending on their chemical structure. Simple carbohydrates include sugars found naturally in foods such as fruits, vegetables, milk, and milk products. They also include sugars added during food processing and refining. Complex carbohydrates include whole grain breads and cereals, starchy vegetables and legumes. Many of the complex carbohydrates are good sources of fiber. For a healthy diet, limit the amount of added sugar that you eat and choose whole grains over refined grains.
What are the signs and symptoms of Hirschsprung disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type 3. 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) Aganglionic megacolon - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes fatal familial insomnia? Fatal familial insomnia (FFI) is caused by a specific change (mutation) in the PRNP gene. PRNP encodes the prion protein. Although the exact function of this protein is unknown, scientists suspect that it plays an important role in the brain. Mutations in the PRNP gene result in an abnormal form of the protein that clumps together and accumulates in the brain. This leads to the destruction of neurons (brain cells) and creates tiny holes in the brain, which give the brain a "sponge-like" appearance when viewed under a microscope. The progressive loss of neurons leads to the many signs and symptoms of FFI.
Werner syndrome is inherited in an autosomal recessive pattern, which means both copies of the WRN gene in each cell have mutations. The parents of an individual with Werner syndrome each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
CHILD syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. The development of organs such as the brain, heart, lungs, and kidneys may also be affected. Several cases in which milder signs and symptoms have been reported in the medical literature. The condition is caused by mutations in the NSDHL gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. CHILD syndrome is inherited in an X-linked dominant fashion and is almost exclusively found in females.
These resources address the diagnosis or management of FIBGC: - Dystonia Medical Research Foundation: Treatments - Gene Review: Gene Review: Primary Familial Brain Calcification - Genetic Testing Registry: Basal ganglia calcification, idiopathic, 2 - Genetic Testing Registry: Basal ganglia calcification, idiopathic, 4 - Genetic Testing Registry: Idiopathic basal ganglia calcification 1 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
Coats plus syndrome appears to be a rare disorder. Its prevalence is unknown.
The tailbone is the small bone at the bottom of your backbone, or spine. Tailbone disorders include tailbone injuries, pain, infections, cysts and tumors. You rarely break your tailbone. Instead, most injuries cause bruises or pulled ligaments. A backward fall onto a hard surface, such as slipping on ice, is the most common cause of such injuries. Symptoms of various tailbone disorders include pain in the tailbone area, pain upon sitting, pain or numbness in the arms or legs due to pressure on nerves in the tailbone area, and a mass or growth you can see or feel.