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How might thalassemia be treated? The best treatment options depend on the severity of thalassemia. People affected by a mild form often need little to no treatment, while people with intermediate to severe thalassemias may require frequent blood transfusions, iron chelation therapy (treatments to remove excess iron from the body), and/or folic acid supplementation. For more information on the treatment of thalassemia, please click here.
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.
Gerstmann-Straussler-Scheinker disease (GSS) is an extremely rare, neurodegenerative brain disorder. It is almost always inherited and is found in only a few families around the world. Onset of the disease usually occurs between the ages of 35 and 55. In the early stages, patients may experience varying levels of ataxia (lack of muscle coordination), including clumsiness, unsteadiness, and difficulty walking. As the disease progresses, the ataxia becomes more pronounced and most patients develop dementia. Other symptoms may include dysarthria (slurring of speech), nystagmus (involuntary movements of the eyes), spasticity (rigid muscle tone), and visual disturbances, sometimes leading to blindness. Deafness also can occur. In some families, parkinsonian features are present. GSS belongs to a family of human and animal diseases known as the transmissible spongiform encephalopathies (TSEs). Other TSEs include Creutzfeldt-Jakob disease, kuru, and fatal familial insomnia.
Signs of childhood craniopharyngioma include vision changes and slow growth. These and other signs and symptoms may be caused by craniopharyngiomas or by other conditions. Check with your childs doctor if your child has any of the following: - Headaches, including morning headache or headache that goes away after vomiting. - Vision changes. - Nausea and vomiting. - Loss of balance or trouble walking. - Increase in thirst or urination. - Unusual sleepiness or change in energy level. - Changes in personality or behavior. - Short stature or slow growth. - Hearing loss. - Weight gain.
Summary : We all need clean water. People need it to grow crops and to operate factories, and for drinking and recreation. Fish and wildlife depend on it to survive. Many different pollutants can harm our rivers, streams, lakes, and oceans. The three most common are soil, nutrients, and bacteria. Rain washes soil into streams and rivers. The soil can kill tiny animals and fish eggs. It can clog the gills of fish and block light, causing plants to die. Nutrients, often from fertilizers, cause problems in lakes, ponds, and reservoirs. Nitrogen and phosphorus make algae grow and can turn water green. Bacteria, often from sewage spills, can pollute fresh or salt water. You can help protect your water supply: - Don't pour household products such as cleansers, beauty products, medicines, auto fluids, paint, and lawn care products down the drain. Take them to a hazardous waste collection site. - Throw away excess household grease (meat fats, lard, cooking oil, shortening, butter, margarine, etc.) diapers, condoms, and personal hygiene products in the garbage can. - Clean up after your pets. Pet waste contains nutrients and germs. Environmental Protection Agency
MEN1 is an inherited disorder that causes tumors in the endocrine glands and the duodenum, the first part of the small intestine. MEN1 is sometimes called multiple endocrine adenomatosis or Wermer's syndrome, after one of the first doctors to recognize it. MEN1 is rare, occurring in about one in 30,000 people.1 The disorder affects both sexes equally and shows no geographical, racial, or ethnic preferences. Endocrine glands release hormones into the bloodstream. Hormones are powerful chemicals that travel through the blood, controlling and instructing the functions of various organs. Normally, the hormones released by endocrine glands are carefully balanced to meet the body's needs. In people with MEN1, multiple endocrine glands form tumors and become hormonally overactive, often at the same time. The overactive glands may include the parathyroids, pancreas, or pituitary. Most people who develop overactivity of only one endocrine gland do not have MEN1.
Scabies is an itchy skin condition caused by the microscopic mite Sarcoptes scabei. It is common all over the world, and can affect anyone. Scabies spreads quickly in crowded conditions where there is frequent skin-to-skin contact between people. Hospitals, child-care centers, and nursing homes are examples. Scabies can easily infect sex partners and other household members. Sharing clothes, towels, and bedding can sometimes spread scabies. This can happen much more easily when the infested person has crusted scabies. You cannot get scabies from a pet. Pets get a different mite infection called mange. Symptoms are - Pimple-like irritations or a rash - Intense itching, especially at night - Sores caused by scratching Your health care provider diagnoses scabies by looking at the skin rash and finding burrows in the skin. Several lotions are available to treat scabies. The infected person's clothes, bedding and towels should be washed in hot water and dried in a hot dryer. Treatment is also recommended for household members and sexual partners. Centers for Disease Control and Prevention
Different types of medications may be useful at different stages of treatment to help a person stop abusing a substance, stay in treatment, focus on learning new behavioral skills, and avoid relapse. Currently, medications are available to treat addiction to opiates, nicotine, and alcohol, but none are yet approved for treating addiction to stimulants, marijuana, or depressants. Medications for substance abuse treatment help the brain adjust to the absence of the abused substance. These medications act slowly to stave off drug cravings and prevent relapse. For example, buprenorphine, marketed as Subutex or Suboxone, is prescribed by approved physicians to treat people who are addicted to opiate drugs, such as painkillers or heroin. Buprenorphine is useful in the short-term detoxification process by helping ease withdrawal symptoms and in the long-term by staving off cravings and helping prevent relapse. For more on treating opioid addiction, seeTreating Addiction to Prescription Opioids." For information on treating addiction to depressants, see "Treating Addiction to CNS Depressants." For information on treating addiction to stimulants, see Treating Addiction to Prescription Stimulants."
Some signs that may indicate you need professional help for depression include - feelings of worry, sadness, and hopelessness that don't go away - feeling overwhelmed or out of control for long periods of time - crying for a long time or many times a day - thinking about hurting or killing yourself - loss of interest in usual activities. feelings of worry, sadness, and hopelessness that don't go away feeling overwhelmed or out of control for long periods of time crying for a long time or many times a day thinking about hurting or killing yourself loss of interest in usual activities.
When CPVT results from mutations in the RYR2 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases, an affected person inherits an RYR2 gene mutation from one affected parent. The remaining cases result from new mutations in the RYR2 gene and occur in people with no history of the disorder in their family. When CPVT is caused by mutations in the CASQ2 gene, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that 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.
Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine. Affected individuals commonly have a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenhar disease may also affect the facial structure, heart, lungs, kidneys, and central nervous system. The underlying cause of the condition remains unknown.
There is no treatment to halt this genetic disorder. Individuals are given supportive care. Migraine headaches may be treated by different drugs and a daily aspirin may reduce stroke and heart attack risk. Drug therapy for depression may be given. Affected individuals who smoke should quit as it can increase the risk of stroke in CADASIL. Other stroke risk factors such as hypertension, hyperlipidemia, diabetes, blood clotting disorders and obstructive sleep apnea also should be aggressively treated..
What are the signs and symptoms of bronchiolitis obliterans organizing pneumonia (BOOP)? Signs and symptoms of BOOP vary. Some individuals with BOOP may have no apparent symptoms, while others may have severe respiratory distress as in acute, rapidly-progressive BOOP. The most common signs and symptoms of BOOP include shortness of breath (dyspnea), dry cough, and fever. Some people with BOOP develope a flu-like illness with cough, fever, fatigue, and weight loss.
The cause of simple kidney cysts is not fully understood. Obstruction of tubulestiny structures within the kidneys that collect urineor deficiency of blood supply to the kidneys may play a role. Diverticulasacs that form on the tubulesmay detach and become simple kidney cysts. The role of genetic factors in the development of simple kidney cysts has not been studied.
Mutations in the AASS gene cause hyperlysinemia. The AASS gene provides instructions for making an enzyme called aminoadipic semialdehyde synthase. This enzyme performs two functions in the breakdown of lysine. First, the enzyme breaks down lysine to a molecule called saccharopine. It then breaks down saccharopine to a molecule called alpha-aminoadipate semialdehyde. Mutations in the AASS gene that impair the breakdown of lysine result in elevated levels of lysine in the blood and urine. These increased levels of lysine do not appear to have any negative effects on the body. When mutations in the AASS gene impair the breakdown of saccharopine, this molecule builds up in blood and urine. This buildup is sometimes referred to as saccharopinuria, which is considered to be a variant of hyperlysinemia. It is unclear if saccharopinuria causes any symptoms.
These resources address the diagnosis or management of hereditary neuralgic amyotrophy: - Gene Review: Gene Review: Hereditary Neuralgic Amyotrophy - Genetic Testing Registry: Hereditary neuralgic amyotrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How is aquagenic pruritus diagnosed? Criteria for diagnosis include : Severe itching, prickling, stinging, or burning that consistently develops after skin contact with water, regardless of water temperature or salinity; Lack of visible skin manifestations; Reaction within minutes of exposure and lasting anywhere between 10 minutes to 2 hours; Lack of a other skin disease, internal condition, or medication to account for the reaction; and Exclusion of all other physical urticarias, symptomatic dermographism, and polycythemia vera.
Insomnia is a common sleep disorder. If you have it, you may have trouble falling asleep, staying asleep, or both. As a result, you may get too little sleep or have poor-quality sleep. You may not feel refreshed when you wake up. Symptoms of insomnia include: - Lying awake for a long time before you fall asleep - Sleeping for only short periods - Being awake for much of the night - Feeling as if you haven't slept at all - Waking up too early Your doctor will diagnose insomnia based on your medical and sleep histories and a physical exam. He or she also may recommend a sleep study. A sleep study measures how well you sleep and how your body responds to sleep problems. Treatments include lifestyle changes, counseling, and medicines. NIH: National Heart, Lung, and Blood Institute
Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive; and other symptoms. It may be classified as neuropathic (from lack of nerve function) or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner) and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms and ensure that nutritional support is adequate.
These resources address the diagnosis or management of neurofibromatosis type 1: - Gene Review: Gene Review: Neurofibromatosis 1 - Genetic Testing Registry: Neurofibromatosis, type 1 - MedlinePlus Encyclopedia: Neurofibromatosis-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
Your knee joint is made up of bone, cartilage, ligaments and fluid. Muscles and tendons help the knee joint move. When any of these structures is hurt or diseased, you have knee problems. Knee problems can cause pain and difficulty walking. Knee problems are very common, and they occur in people of all ages. Knee problems can interfere with many things, from participation in sports to simply getting up from a chair and walking. This can have a big impact on your life. The most common disease affecting the knee is osteoarthritis. The cartilage in the knee gradually wears away, causing pain and swelling. Injuries to ligaments and tendons also cause knee problems. A common injury is to the anterior cruciate ligament (ACL). You usually injure your ACL by a sudden twisting motion. ACL and other knee injuries are common sports injuries. Treatment of knee problems depends on the cause. In some cases your doctor may recommend knee replacement. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Summary : Like adults, kids need exercise. Most children need at least an hour of physical activity every day. Regular exercise helps children - Feel less stressed - Feel better about themselves - Feel more ready to learn in school - Keep a healthy weight - Build and keep healthy bones, muscles and joints - Sleep better at night As kids spend more time watching TV, they spend less time running and playing. Parents should limit TV, video game and computer time. Parents can set a good example by being active themselves. Exercising together can be fun for everyone. Competitive sports can help kids stay fit. Walking or biking to school, dancing, bowling and yoga are some other ways for kids to get exercise.
What are the signs and symptoms of Renal hypouricemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hypouricemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute kidney injury - Autosomal recessive inheritance - Hypouricemia - Increased urinary urate - Uric acid nephrolithiasis - 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.
These resources address the diagnosis or management of Ghosal hematodiaphyseal dysplasia: - Genetic Testing Registry: Ghosal syndrome - National Heart, Lung, and Blood Institute: How is Anemia Diagnosed? - National Heart, Lung, and Blood Institute: How is Anemia Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. Later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. End stage renal disease (ESRD) eventually follows. There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. The 2 types also differ by MCKD 1 being associated with ESRD at an average age of 62 years, while MCKD 2 is associated with ESRD around 32 years and is more likely to be associated with hyperuricemia and gout. Treatment for MCKD may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure.
These resources address the diagnosis or management of lung cancer: - Genetic Testing Registry: Lung cancer - Genetic Testing Registry: Non-small cell lung cancer - Lung Cancer Mutation Consortium: About Mutation Testing - MedlinePlus Encyclopedia: Lung Cancer--Non-Small Cell - MedlinePlus Encyclopedia: Lung Cancer--Small Cell - National Cancer Institute: Drugs Approved for Lung Cancer - National Cancer Institute: Non-Small Cell Lung Cancer Treatment - National Cancer Institute: Small Cell Lung Cancer Treatment 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
Takayasu arteritis is a condition that causes inflammation of the main blood vessel that carries blood from the heart to the rest of the body (aorta) and its associated branched blood vessels. As a result of the inflammation, the blood vessel walls become thick and make it difficult for blood to flow. Over time, impaired blood flow causes damage to the heart and various other organs of the body. Although the cause remains unknown, Takayasu arteritis appears to be an autoimmune condition, in which cells that fight infection and disease are wrongly targeted against the body's own tissues.
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.
Leydig cell hypoplasia is a rare disorder; its prevalence is unknown.
What are the signs and symptoms of Jervell and Lange-Nielsen syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Jervell and Lange-Nielsen syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Prolonged QT interval - Sensorineural hearing impairment - Syncope - 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 dominant dystrophic epidermolysis bullosa? Dominant dystrophic epidermolysis bullosa (DDEB) is caused by mutations in the COL7A1 gene. The COL7A1 gene provides instructions for making a protein that is used to assemble type VII collagen. Collagen gives structure and strength to connective tissues, such as skin, tendons, and ligaments, throughout the body. Type VII collagen plays an important role in strengthening and stabilizing the skin. It is the main component of structures called anchoring fibrils, which anchor the top layer of skin, called the epidermis, to an underlying layer called the dermis. COL7A1 mutations alter the structure or disrupt the production of type VII collagen, which impairs its ability to help connect the epidermis to the dermis. When type VII collagen is abnormal or missing, friction or other minor trauma can cause the two skin layers to separate. This separation leads to the formation of blisters, which can cause extensive scarring as they heal. A diagram of the skin structure including the area of skin implicated in DDEB is provided by the National Institute of Arthritis and Musculoskeletal and Skin Diseases. Click on the link for more.
Most kinds of arthritis cause pain and swelling in your joints. Joints are places where two bones meet, such as your elbow or knee. Infectious arthritis is an infection in the joint. The infection comes from a bacterial, viral, or fungal infection that spreads from another part of the body. Symptoms of infectious arthritis include - Intense pain in the joint - Joint redness and swelling - Chills and fever - Inability to move the area with the infected joint One type of infectious arthritis is reactive arthritis. The reaction is to an infection somewhere else in your body. The joint is usually the knee, ankle, or toe. Sometimes, reactive arthritis is set off by an infection in the bladder, or in the urethra, which carries urine out of the body. In women, an infection in the vagina can cause the reaction. For both men and women, it can start with bacteria passed on during sex. Another form of reactive arthritis starts with eating food or handling something that has bacteria on it. To diagnose infectious arthritis, your health care provider may do tests of your blood, urine, and joint fluid. Treatment includes medicines and sometimes surgery.
How is progressive bulbar palsy diagnosed? What tests aid in the diagnosis of progressive bulbar palsy? Progressive bulbar palsy is a difficult to diagnose condition. No one test or procedure offers a definitive diagnosis. Diagnosis is largely based upon the person's symptoms, tests that show how well their nerves are working (e.g., an EMG or electromyography), and ruling out other causes for the symptoms. Particularly, stroke and a condition called myasthenia gravis, may have certain symptoms that are similar to those of progressive bulbar palsy and must be ruled out prior to diagnosing this disorder. Testing for acetylcholine receptor-binding antibodies may be helpful in ruling out myasthenia gravis. Because of the lack of definitive tests, you may find it helpful to consult with a doctor who is experienced in diagnosing ALS. The ALS Association lists experts and specialty centers through their Web site at: http://www.alsa.org/community/als-clinics
Summary : People in rural areas face some different health issues than people who live in towns and cities. Getting health care can be a problem when you live in a remote area. You might not be able to get to a hospital quickly in an emergency. You also might not want to travel long distances to get routine checkups and screenings. Rural areas often have fewer doctors and dentists, and certain specialists might not be available at all. Because it can be hard to get care, health problems in rural residents may be more serious by the time they are diagnosed. People in rural areas of the United States have higher rates of chronic disease than people in urban areas. They also have higher rates of certain types of cancer, from exposure to chemicals used in farming.
Mutations in the ATP1A2 and CACNA1A genes have been found to cause sporadic hemiplegic migraine. The proteins produced from these genes transport charged atoms (ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. Signaling between neurons relies on chemicals called neurotransmitters, which are released from one neuron and taken up by neighboring neurons. Mutations in the ATP1A2 and CACNA1A genes disrupt the transport of ions in neurons, which is thought to impair the normal release and uptake of certain neurotransmitters in the brain. The resulting abnormal signaling may lead to the severe headaches and auras characteristic of sporadic hemiplegic migraine. Many people with sporadic hemiplegic migraine do not have a mutation in one of the known genes. Researchers believe that mutations in other genes are also involved in the condition, although these genes have not been identified. There is little evidence that mutations in the CACNA1A and ATP1A2 genes play a role in common migraines, which affect millions of people each year. Researchers are searching for additional genetic changes that may underlie rare types of migraine, such as sporadic hemiplegic migraine, as well as the more common forms of migraine.
Most of us see our world in color. We enjoy looking at a lush green lawn or a red rose in full bloom. If you have a color vision defect, you may see these colors differently than most people. There are three main kinds of color vision defects. Red-green color vision defects are the most common. This type occurs in men more than in women. The other major types are blue-yellow color vision defects and a complete absence of color vision. Most of the time, color blindness is genetic. There is no treatment, but most people adjust and the condition doesn't limit their activities.
The structure of your face helps protect your eyes from injury. Still, injuries can damage your eye, sometimes severely enough that you could lose your vision. Most eye injuries are preventable. If you play sports or work in certain jobs, you may need protection. The most common type of injury happens when something irritates the outer surface of your eye. Certain jobs such as industrial jobs or hobbies such as carpentry make this type of injury more likely. It's also more likely if you wear contact lenses. Chemicals or heat can burn your eyes. With chemicals, the pain may cause you to close your eyes. This traps the irritant next to the eye and may cause more damage. You should wash out your eye right away while you wait for medical help.
Health history and certain medicines can affect the risk of developing endometrial cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. People who think they may be at risk should discuss this with their doctor. Risk factors for endometrial cancer include the following: - Taking tamoxifen for treatment or prevention of breast cancer. - Taking estrogen alone. (Taking estrogen in combination with progestin does not appear to increase the risk of endometrial cancer.) - Being overweight. - Eating a high-fat diet. - Never giving birth. - Beginning menstruation at an early age. - Reaching menopause at an older age. - Having the gene for hereditary non-polyposis colon cancer (HNPCC). - Being white.
What are the signs and symptoms of Atrial myxoma, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial myxoma, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bacterial endocarditis - Pulmonic valve myxoma - 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.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
These resources address the diagnosis or management of Perrault syndrome: - Gene Review: Gene Review: Perrault Syndrome - Genetic Testing Registry: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance - Genetic Testing Registry: Perrault syndrome 2 - Genetic Testing Registry: Perrault syndrome 4 - Genetic Testing Registry: Perrault syndrome 5 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What symptoms are associated with limbic encephalitis? Although the symptoms of the condition may vary from person to person, the cardinal sign of limbic encephalitis is severe impairment of short-term memory, with most patients having difficulties in recall. A large variety of symptoms may be associated with limbic encephalitis such as anterograde amnesia (the inability to store new memories after the onset of the condition), anxiety, depression, irritability, personality change, acute confusional state, hallucinations and seizures. Other possible symptoms may include obsessiveness, hyperthermia (increase in body temperature), weight change, hypersomnia, endocrine dysfunction, aphasia, and apraxia. The symptoms associated with limbic encephalitis can develop over a few days, weeks, or months. It is important to note the neurological symptoms generally precede diagnosis of the malignancy in 60%-75% of patients that have paraneoplastic limbic encephalitis.
Sialuria is a rare disorder that has variable effects on development. Affected infants are often born with a yellow tint to the skin and the whites of the eyes (neonatal jaundice), an enlarged liver and spleen (hepatosplenomegaly), and unusually small red blood cells (microcytic anemia). They may develop a somewhat flat face and distinctive-looking facial features that are described as "coarse." Temporarily delayed development and weak muscle tone (hypotonia) have also been reported. Young children with sialuria tend to have frequent upper respiratory infections and episodes of dehydration and stomach upset (gastroenteritis). Older children may have seizures and learning difficulties. In some affected children, intellectual development is nearly normal. The features of sialuria vary widely among affected people. Many of the problems associated with this disorder appear to improve with age, although little is known about the long-term effects of the disease. It is likely that some adults with sialuria never come to medical attention because they have very mild signs and symptoms or no health problems related to the condition.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type and size of the tumor. - The patient's general health. - Whether the cancer has just been diagnosed or has recurred (come back).
Hereditary fructose intolerance (HFI) is a metabolic disease caused by the absence of an enzyme called aldolase B. In people with HFI, ingestion of fructose (fruit sugar) and sucrose (cane or beet sugar, table sugar) causes severe hypoglycemia (low blood sugar) and the build up of dangerous substances in the liver. HFI may be relatively mild or a very severe disease. The condition is caused by mutations in the ALDOB gene. It is inherited in an autosomal recessive pattern. Treatment involves eliminating fructose and sucrose from the diet. In the severe form, eliminating these sugars from the diet may not prevent progressive liver disease.
These resources address the diagnosis or management of familial hemophagocytic lymphohistiocytosis: - Gene Review: Gene Review: Hemophagocytic Lymphohistiocytosis, Familial - Genetic Testing Registry: Familial hemophagocytic lymphohistiocytosis - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 2 - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 3 - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 4 - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 5 - The Merck Manual for Healthcare Professionals - University of Minnesota: Pediatric Blood & Marrow Transplantation Center 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
Genetic factors can increase the risk of having a gastrointestinal stromal tumor. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. The genes in cells carry the hereditary information received from a persons parents. The risk of GIST is increased in people who have inherited a mutation (change) in a certain gene. In rare cases, GISTs can be found in several members of the same family. GIST may be part of a genetic syndrome, but this is rare. A genetic syndrome is a set of symptoms or conditions that occur together and is usually caused by abnormal genes. The following genetic syndromes have been linked to GIST: - Neurofibromatosis type 1 (NF1). - Carney triad.
Leber congenital amaurosis occurs in 2 to 3 per 100,000 newborns. It is one of the most common causes of blindness in children.
What are the signs and symptoms of Preaxial polydactyly type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 1. 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) Preaxial hand polydactyly - Radial deviation of thumb terminal phalanx - 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.
These resources address the diagnosis or management of Salih myopathy: - Gene Review: Gene Review: Salih Myopathy - Genetic Testing Registry: Myopathy, early-onset, with fatal cardiomyopathy 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
Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature. The characteristic aged appearance of individuals with Werner syndrome typically begins to develop when they are in their twenties and includes graying and loss of hair; a hoarse voice; and thin, hardened skin. They may also have a facial appearance described as "bird-like." Many people with Werner syndrome have thin arms and legs and a thick trunk due to abnormal fat deposition. As Werner syndrome progresses, affected individuals may develop disorders of aging early in life, such as cloudy lenses (cataracts) in both eyes, skin ulcers, type 2 diabetes, diminished fertility, severe hardening of the arteries (atherosclerosis), thinning of the bones (osteoporosis), and some types of cancer. It is not uncommon for affected individuals to develop multiple, rare cancers during their lifetime. People with Werner syndrome usually live into their late forties or early fifties. The most common causes of death are cancer and atherosclerosis.
Drug abuse is a serious public health problem that affects almost every community and family in some way. Each year drug abuse causes millions of serious illnesses or injuries among Americans. Abused drugs include - Methamphetamine - Anabolic steroids - Club drugs - Cocaine - Heroin - Inhalants - Marijuana - Prescription drugs Drug abuse also plays a role in many major social problems, such as drugged driving, violence, stress, and child abuse. Drug abuse can lead to homelessness, crime, and missed work or problems with keeping a job. It harms unborn babies and destroys families. There are different types of treatment for drug abuse. But the best is to prevent drug abuse in the first place. NIH: National Institute on Drug Abuse
Like all arenaviruses, Chapare virus has a rodent host as its reservoir. Humans can contract CHHF through contact with an infected rodent. Contact can be direct or through inhalation of aerosolized Chapare virus from the urine or feces of infected rodents. Although arenaviruses have been isolated from insects, neither they nor any other intermediary host appear to spread CHHF. Person-to-person transmission of arenaviruses through aerosolization, although possible, is rare. From the only observed cluster of cases of CHHF, there was no evidence of person-to-person transmission. Transmission, if it can occur with CHHF, is most likely the result of direct contact with an infected person.
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.
Meningitis is inflammation of the thin tissue that surrounds the brain and spinal cord, called the meninges. There are several types of meningitis. The most common is viral meningitis, which you get when a virus enters the body through the nose or mouth and travels to the brain. Bacterial meningitis is rare, but can be deadly. It usually starts with bacteria that cause a cold-like infection. It can block blood vessels in the brain and lead to stroke and brain damage. It can also harm other organs. Pneumococcal infections and meningococcal infections can cause bacterial meningitis. Anyone can get meningitis, but it is more common in people whose bodies have trouble fighting infections. Meningitis can progress rapidly. You should seek medical care quickly if you have - A sudden fever - A severe headache - A stiff neck Early treatment can help prevent serious problems, including death. Vaccines can prevent some of the bacterial infections that cause meningitis. Parents of adolescents and students living in college dorms should talk to a doctor about the vaccination. NIH: National Institute of Neurological Disorders and Stroke
22q13.3 deletion syndrome is caused by a deletion near the end of the long (q) arm of chromosome 22. The signs and symptoms of 22q13.3 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. A ring chromosome 22 can also cause 22q13.3 deletion syndrome. A ring chromosome is a circular structure that occurs when a chromosome breaks in two places, the tips of the chromosome are lost, and the broken ends fuse together. People with ring chromosome 22 have one copy of this abnormal chromosome in some or all of their cells. Researchers believe that several critical genes near the end of the long (q) arm of chromosome 22 are lost when the ring chromosome 22 forms. If one of the chromosome break points is at position 22q13.3, people with ring chromosome 22 have similar signs and symptoms as those with a simple deletion. Researchers are working to identify all of the genes that contribute to the features of 22q13.3 deletion syndrome. They have determined that the loss of a particular gene on chromosome 22, SHANK3, is likely to be responsible for many of the syndrome's characteristic signs (such as developmental delay, intellectual disability, and impaired speech). Additional genes in the deleted region probably contribute to the varied features of 22q13.3 deletion syndrome.
These resources address the diagnosis or management of trimethylaminuria: - Gene Review: Gene Review: Primary Trimethylaminuria - Genetic Testing Registry: Trimethylaminuria - Monell Chemical Senses Center: TMAU & Body Malodors - National Human Genome Research Institute: Diagnosis and Treatment of Trimethylaminuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin sensitivity. However, different polymorphisms affect the activity of warfarin to varying degrees. Additionally, people who have more than one polymorphism in a gene or polymorphisms in multiple genes associated with warfarin sensitivity have a lower tolerance for the drug's effect or take even longer to clear the drug from their body.
This condition is rare; only a few affected individuals have been reported worldwide.
Mutations in the BSCL2 and GARS genes cause distal hereditary motor neuropathy, type V. The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. Mutations in the BSCL2 gene likely alter the structure of seipin, causing it to fold into an incorrect 3-dimensional shape. Research findings indicate that misfolded seipin proteins accumulate in the endoplasmic reticulum, which is a structure inside the cell that is involved in protein processing and transport. This accumulation likely damages and kills motor neurons (specialized nerve cells in the brain and spinal cord that control muscle movement), leading to muscle weakness in the hands and feet. The GARS gene provides instructions for making an enzyme called glycyl-tRNA synthetase, which is involved in the production (synthesis) of proteins. It is unclear how GARS gene mutations lead to distal hereditary motor neuropathy, type V. The mutations probably reduce the activity of glycyl-tRNA synthetase. A reduction in the activity of this enzyme may impair transmission of nerve impulses. As a result, nerve cells slowly lose the ability to communicate with muscles in the hands and feet. Mutations in other genes may also cause distal hereditary motor neuropathy, type V.
A rash is an area of irritated or swollen skin. Many rashes are itchy, red, painful, and irritated. Some rashes can also lead to blisters or patches of raw skin. Rashes are a symptom of many different medical problems. Other causes include irritating substances and allergies. Certain genes can make people more likely to get rashes. Contact dermatitis is a common type of rash. It causes redness, itching, and sometimes small bumps. You get the rash where you have touched an irritant, such as a chemical, or something you are allergic to, like poison ivy. Some rashes develop right away. Others form over several days. Although most rashes clear up fairly quickly, others are long-lasting and need long-term treatment. Because rashes can be caused by many different things, it's important to figure out what kind you have before you treat it. If it is a bad rash, if it does not go away, or if you have other symptoms, you should see your health care provider. Treatments may include moisturizers, lotions, baths, cortisone creams that relieve swelling, and antihistamines, which relieve itching.
Waardenburg syndrome is usually 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. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family. Some cases of type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.
A heart murmur may be the only sign that a baby has patent ductus arteriosus (PDA). A heart murmur is an extra or unusual sound heard during the heartbeat. Heart murmurs also have other causes besides PDA, and most murmurs are harmless. Some infants may develop signs or symptoms of volume overload on the heart and excess blood flow in the lungs. Signs and symptoms may include: Fast breathing, working hard to breathe, or shortness of breath. Premature infants may need increased oxygen or help breathing from a ventilator. Poor feeding and poor weight gain. Tiring easily. Sweating with exertion, such as while feeding.
The prognosis depends upon the length and degree of exposure and the severity of neurological injury. In some instances, exposure to neurotoxicants can be fatal. In others, patients may survive but not fully recover. In other situations, many individuals recover completely after treatment.
These resources address the diagnosis or management of Mowat-Wilson syndrome: - Gene Review: Gene Review: Mowat-Wilson Syndrome - Genetic Testing Registry: Mowat-Wilson syndrome - MedlinePlus Encyclopedia: Hirschsprung'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
Dihydropyrimidine dehydrogenase deficiency is caused by mutations in the DPYD gene. This gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase, which is involved in the breakdown of molecules called uracil and thymine. Uracil and thymine are pyrimidines, which are one type of nucleotide. Nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. Mutations in the DPYD gene result in a lack (deficiency) of functional dihydropyrimidine dehydrogenase. Dihydropyrimidine dehydrogenase deficiency interferes with the breakdown of uracil and thymine, and results in excess quantities of these molecules in the blood, urine, and the fluid that surrounds the brain and spinal cord (cerebrospinal fluid). It is unclear how the excess uracil and thymine are related to the specific signs and symptoms of dihydropyrimidine dehydrogenase deficiency. Mutations that result in the absence (complete deficiency) of dihydropyrimidine dehydrogenase generally lead to more severe signs and symptoms than do mutations that lead to a partial deficiency of this enzyme. Because fluoropyrimidine drugs are also broken down by the dihydropyrimidine dehydrogenase enzyme, deficiency of this enzyme leads to the drug buildup that causes fluoropyrimidine toxicity.
Testicular cancer can usually be cured. Although the number of new cases of testicular cancer has doubled in the last 40 years, the number of deaths caused by testicular cancer has decreased greatly because of better treatments. Testicular cancer can usually be cured, even in late stages of the disease. (See the PDQ summary on Testicular Cancer Treatment for more information.)
AR-HIES is a rare disorder whose prevalence is unknown.
Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Individuals with NBCIE have skin that is red (erythema) and covered with fine white scales. Some people with NBCIE have outward turning eyelids and lips, a thickening of the skin on the palms and soles of the feet (keratoderma), and nails that do not grow normally (nail dystrophy). Infants with NBCIE may develop infections, an excessive loss of fluids (dehydration), and respiratory problems early in life.
These resources address the diagnosis or management of spinal muscular atrophy: - Gene Review: Gene Review: Spinal Muscular Atrophy - Gene Review: Gene Review: Spinal Muscular Atrophy, X-Linked Infantile - Genetic Testing Registry: Adult proximal spinal muscular atrophy, autosomal dominant - Genetic Testing Registry: Arthrogryposis multiplex congenita, distal, X-linked - Genetic Testing Registry: Kugelberg-Welander disease - Genetic Testing Registry: Spinal muscular atrophy type 4 - Genetic Testing Registry: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant - Genetic Testing Registry: Spinal muscular atrophy, type II - Genetic Testing Registry: Werdnig-Hoffmann disease - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Spinal Muscular Atrophy 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 mandibuloacral dysplasia: - Genetic Testing Registry: Mandibuloacral dysostosis - Genetic Testing Registry: Mandibuloacral dysplasia with type B lipodystrophy 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 ichthyosis with confetti: - Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips - Foundation for Ichthyosis and Related Skin Types (FIRST): Treating Ichthyosis 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
X-linked intellectual disability, Siderius type is caused by mutations in the PHF8 gene. This gene provides instructions for making a protein that is found in the nucleus of cells, particularly in brain cells before and just after birth. The PHF8 protein attaches (binds) to complexes called chromatin to regulate the activity (expression) of other genes. Chromatin is the network of DNA and protein that packages DNA into chromosomes. Binding with the PHF8 protein is part of the process that changes the structure of chromatin (chromatin remodeling) to alter how tightly regions of DNA are packaged. Chromatin remodeling is one way gene expression is regulated; when DNA is tightly packed, gene expression is often lower than when DNA is loosely packed. Most PHF8 gene mutations lead to an abnormally short protein that gets transported out of the cell's nucleus. Outside of the nucleus, the PHF8 protein cannot interact with chromatin to regulate gene expression. While the exact disease mechanism is unknown, it is likely that a lack of PHF8 protein in the nucleus of brain cells before birth prevents chromatin remodeling, altering the normal expression of genes involved in intellectual function and formation of structures along the midline of the skull. This altered gene expression leads to intellectual disability, cleft lip and palate, and the other features of X-linked intellectual disability, Siderius type.
These resources address the diagnosis or management of catecholaminergic polymorphic ventricular tachycardia: - Cleveland Clinic: Management of Arrhythmias - Gene Review: Gene Review: Catecholaminergic Polymorphic Ventricular Tachycardia - Genetic Testing Registry: Catecholaminergic polymorphic ventricular tachycardia - Genetic Testing Registry: Ventricular tachycardia, catecholaminergic polymorphic, 2 - MedlinePlus Encyclopedia: Fainting - MedlinePlus Encyclopedia: Ventricular Tachycardia 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
Age and gender can affect the risk of extragonadal germ cell tumors. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for malignant extragonadal germ cell tumors include the following: - Being male. - Being age 20 or older. - Having Klinefelter syndrome.
What are the signs and symptoms of Congenital radio-ulnar synostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital radio-ulnar synostosis. 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 - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - 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.
Urinary retention in men becomes more common with age. - In men 40 to 83 years old, the overall incidence of urinary retention is 4.5 to 6.8 per 1,000 men.2 - For men in their 70s, the overall incidence increases to 100 per 1,000 men.2 - For men in their 80s, the incidence of acute urinary retention is 300 per 1,000 men.2 Urinary retention in women is less common, though not rare.3 The incidence of urinary retention in women has not been well studied because researchers have primarily thought of urinary retention as a mans problem related to the prostate.4
Craniofacial microsomia most often occurs in a single individual in a family and is not inherited. If the condition is caused by a chromosomal abnormality, it may be inherited from one affected parent or it may result from a new abnormality in the chromosome and occur in people with no history of the disorder in their family. In 1 to 2 percent of cases, craniofacial microsomia is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In rare cases, the condition is inherited in an autosomal recessive pattern, which means both copies of a 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 gene or genes involved in craniofacial microsomia are unknown. In some affected families, people seem to inherit an increased risk of developing craniofacial microsomia, not the condition itself. In these cases, some combination of genetic changes and environmental factors may be involved.
Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, ranging in size from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but typically they close before the baby is born, usually by the fifth month of pregnancy. However, in people with this condition, the parietal foramina remain open throughout life. The enlarged parietal foramina are soft to the touch due to the lack of bone at those areas of the skull. People with enlarged parietal foramina usually do not have any related health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, and individuals with this condition have an increased risk of brain damage or skull fractures if any trauma is experienced in the area of the openings. There are two forms of enlarged parietal foramina, called type 1 and type 2, which differ in their genetic cause.
How is Parkinson disease diagnosed? There are currently no blood or laboratory tests that have been proven to help diagnose sporadic cases of Parkinson disease. The diagnosis is generally made after careful evaluation of medical history, current symptoms, and exclusion of other conditions. The clinical findings of tremor, rigidity, and bradykinesia are highly suggestive of Parkinson disease. The genetic cause of some forms of Parkinson disease has been identified. In those cases, genetic testing may be utilized to identify affected family members.
If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat-clearing and blinking. You may repeat words, spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It often occurs with other problems, such as - Attention deficit hyperactivity disorder (ADHD) - Obsessive-compulsive disorder (OCD) - Anxiety - Depression The cause of Tourette syndrome is unknown. It is more common in boys than girls. The tics usually start in childhood and may be worst in the early teens. Many people eventually outgrow them. No treatment is needed unless the tics interfere with everyday life. Excitement or worry can make tics worse. Calm, focused activities may make them better. Medicines and talk therapy may also help. NIH: National Institute of Neurological Disorders and Stroke
LOC syndrome is caused by mutations in the LAMA3 gene, which provides instructions for making one part (subunit) of a protein called laminin 332. This protein is made up of three subunits, called alpha, beta, and gamma. The LAMA3 gene carries instructions for the alpha subunit; the beta and gamma subunits are produced from other genes. The laminin 332 protein plays an important role in strengthening and stabilizing the skin by helping to attach the top layer of skin (the epidermis) to underlying layers. Studies suggest that laminin 332 is also involved in wound healing. Additionally, researchers have proposed roles for laminin 332 in the clear outer covering of the eye (the cornea) and in the development of tooth enamel. The mutations involved in LOC syndrome alter the structure of one version of the alpha subunit of laminin 332 (called alpha-3a). Laminins made with the altered subunit cannot effectively attach the epidermis to underlying layers of skin or regulate wound healing. These abnormalities of laminin 332 cause the cutaneous erosions and overgrowth of granulation tissue that are characteristic of LOC syndrome. The inability of laminin 332 to perform its other functions leads to the nail and tooth abnormalities that occur in this condition.
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder that causes progressive weakness and impaired sensory function in the legs and arms. Symptoms often include tingling or numbness (first in the toes and fingers); weakness of the arms and legs; loss of deep tendon reflexes; fatigue; and abnormal sensations. CIDP is thought to be caused by an abnormal immune response in which the immune system mistakenly attacks and damages the myelin sheath (the covering that protects nerve fibers) of the peripheral nerves. CIDP is closely related to Guillain-Barre syndrome (GBS) and is considered the "chronic counterpart" of GBS. Treatment may include corticosteroids, immunosuppressant drugs, plasma exchange, physiotherapy, and/or intravenous immunoglobulin (IVIG) therapy.
Diagnosis of a scabies infestation usually is made based upon the customary appearance and distribution of the the rash and the presence of burrows. Whenever possible, the diagnosis of scabies should be confirmed by identifying the mite or mite eggs or fecal matter (scybala). This can be done by carefully removing the mite from the end of its burrow using the tip of a needle or by obtaining a skin scraping to examine under a microscope for mites, eggs, or mite fecal matter (scybala). However, a person can still be infested even if mites, eggs, or fecal matter cannot be found; fewer then 10-15 mites may be present on an infested person who is otherwise healthy.
Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of certain types of cancer. Some cancer prevention trials are done with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are done with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. New ways to prevent oral cavity cancer and oropharyngeal cancer are being studied in clinical trials. Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for oral cavity cancer prevention trials and oropharyngeal cancer prevention trials that are now accepting patients.
The recommended blood test for checking your cholesterol levels is called a fasting lipoprotein profile. It will show your - total cholesterol - low-density lipoprotein (LDL), or bad cholesterol -- the main source of cholesterol buildup and blockage in the arteries - high-density lipoprotein (HDL), or good cholesterol that helps keep cholesterol from building up in your arteries - triglycerides -- another form of fat in your blood. total cholesterol low-density lipoprotein (LDL), or bad cholesterol -- the main source of cholesterol buildup and blockage in the arteries high-density lipoprotein (HDL), or good cholesterol that helps keep cholesterol from building up in your arteries triglycerides -- another form of fat in your blood. You should not eat or drink anything except water and black coffee for 9 to 12 hours before taking the test. If you can't have a lipoprotein profile done, a different blood test will tell you your total cholesterol and HDL (good) cholesterol levels. You do not have to fast before this test. If this test shows that your total cholesterol is 200 mg/dL or higher, or that your HDL (good) cholesterol is less than 40 mg/dL, you will need to have a lipoprotein profile done.
Key Points - Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. - Prostate cancer is the second most common cancer among men in the United States. Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. The prostate is a gland in the male reproductive system. The prostate is just below the bladder (the organ that collects and empties urine) and in front of the rectum (the lower part of the intestine). It is about the size of a walnut and surrounds part of the urethra (the tube that empties urine from the bladder). The prostate gland produces fluid that makes up part of the semen. As men age, the prostate may get bigger. A bigger prostate may block the flow of urine from the bladder and cause problems with sexual function. This condition is called benign prostatic hyperplasia (BPH). BPH is not cancer, but surgery may be needed to correct it. The symptoms of BPH or of other problems in the prostate may be like symptoms of prostate cancer.
Hereditary sensory neuropathy type IE (HSNIE) is a progressive disorder of the central and peripheral nervous systems. Symptoms typically begin by age 20 to 35 and include sensory impairment of the lower legs and feet; loss of sweating in the hands and feet; sensorineural hearing loss; and gradual decline of mental ability (dementia). The severity of symptoms and age of onset vary, even within the same family. HSNIE is caused by a mutation in the DNMT1 gene and is inherited in an autosomal dominant manner. There is no effective treatment, but management may include injury prevention, the use of hearing aids, and sedative or antipsychotic medications for symptoms of dementia.
You can keep track of the ABCs of diabetes to make sure your treatment is working. Talk with your health care provider about the best targets for you. A stands for A1C (a test that measures blood glucose control). Have an A1C test at least twice a year. It shows your average blood glucose level over the past 3 months. Talk with your doctor about whether you should check your blood glucose at home and how to do it. A1C target Below 7 percent, unless your doctor sets a different target Blood glucose targets Before meals 90 to 130 mg/dL 1 to 2 hours after the start of a meal Less than 180 mg/dL B is for blood pressure. Have it checked at every office visit. Blood pressure target Below 140/80 mm Hg, unless your doctor sets a different target C is for cholesterol. Have it checked at least once a year. Blood fat (cholesterol) targets LDL (bad) cholesterol Under 100 mg/dL Triglycerides Under 150 mg/dL HDL (good) cholesterol For men: above 40 mg/dL For women: above 50 mg/dL Control of the ABCs of diabetes can reduce your risk for heart disease and stroke. If your blood glucose, blood pressure, and cholesterol levels aren't on target, ask your doctor what changes in diet, activity, and medications can help you reach these goals.
Kawasaki disease is a rare childhood disease. It makes the walls of the blood vessels in the body become inflamed. It can affect any type of blood vessel, including the arteries, veins, and capillaries. No one knows what causes Kawasaki disease. Symptoms include - High fever that lasts longer than 5 days - Swollen lymph nodes in the neck - A rash on the mid-section and genital area - Red, dry, cracked lips and a red, swollen tongue - Red, swollen palms of the hands and soles of the feet - Redness of the eyes Kawasaki disease can't be passed from one child to another. There is no single test. To diagnose it, doctors look at the signs and symptoms. They may also use an echocardiogram or other tests. It is mainly treated with medicines. Rarely, medical procedures and surgery also may be used for children whose coronary arteries are affected. Kawasaki disease can't be prevented. However, most children who develop the disease fully recover - usually within weeks of getting signs and symptoms. Further problems are rare. NIH: National Heart, Lung, and Blood Institute
There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment generally involves medical management of seizures and programs to help parents and children cope with developmental delays. Long-term management by a pediatric neurologist with expertise in the management of infantile spasms is recommended.
About 1 in 400,000 infants are diagnosed with diabetes mellitus in the first few months of life. However, in about half of these babies the condition is transient and goes away on its own by age 18 months. The remainder are considered to have permanent neonatal diabetes mellitus.
How do people inherit chorea-acanthocytosis? Chorea-acanthocytosis 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.
Legg-Calv-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calv-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls. In this condition, the upper end of the thigh bone, known as the femoral head, breaks down. As a result, the femoral head is no longer round and does not move easily in the hip socket, which leads to hip pain, limping, and restricted leg movement. The bone eventually begins to heal itself through a normal process called bone remodeling, by which old bone is removed and new bone is created to replace it. This cycle of breakdown and healing can recur multiple times. Affected individuals are often shorter than their peers due to the bone abnormalities. Many people with Legg-Calv-Perthes disease go on to develop a painful joint disorder called osteoarthritis in the hips at an early age.
Mutations in the KRT1 or KRT10 genes are responsible for epidermolytic hyperkeratosis. These genes provide instructions for making proteins called keratin 1 and keratin 10, which are found in cells called keratinocytes in the outer layer of the skin (the epidermis). The tough, fibrous keratin proteins attach to each other and form fibers called intermediate filaments, which form networks and provide strength and resiliency to the epidermis. Mutations in the KRT1 or KRT10 genes lead to changes in the keratin proteins, preventing them from forming strong, stable intermediate filament networks within cells. Without a strong network, keratinocytes become fragile and are easily damaged, which can lead to blistering in response to friction or mild trauma. It is unclear how these mutations cause the overgrowth of epidermal cells that results in hyperkeratotic skin. KRT1 gene mutations are associated with PS-type epidermal hyperkeratosis, and KRT10 gene mutations are usually associated with NPS-type. The keratin 1 protein is present in the keratinocytes of the skin on the palms of the hands and the soles of the feet as well as other parts of the body, so mutations in the KRT1 gene lead to skin problems in these areas. The keratin 10 protein is not found in the skin of the palms and soles, so these areas are unaffected by mutations in the KRT10 gene.
How might tracheobronchomalacia be treated? Treatment is only medically necessary in people who have signs and symptoms of tracheobronchomalacia (TBM). Management of symptomatic TBM first involves identifying underlying conditions contributing to symptoms, such as chronic inflammation, compression, or injury. Initial treatment will target these underlying medical concerns. If symptoms persist, people with TBM may undergo pulmonary function tests or other assessments to help guide therapy choice and allow monitoring of the response to treatment. Treatment options may include: Silicone and/or long-term stenting Surgical correction Continuous positive airway pressure (CPAP) Tracheostomy (often used as a last resort as it can sometimes worsen TBM) We strongly recommend that you discuss your treatment options with a healthcare provider.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to brain tumors, including pituitary tumors, in their laboratories at the NIH and also support research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure pituitary tumors.
Glaucoma is a group of diseases that can damage the eye's optic nerve and result in vision loss and blindness. The most common form of the disease is open-angle glaucoma. With early treatment, you can often protect your eyes against serious vision loss. (Watch the video to learn more about glaucoma. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) See this graphic for a quick overview of glaucoma, including how many people it affects, whos at risk, what to do if you have it, and how to learn more. See a glossary of glaucoma terms.
How is a basilar migraine diagnosed? A diagnosis of basilar migraine is made based on the presence of characteristic signs and symptoms. Although there are no tests available to confirm the diagnosis, additional testing may be ordered to rule out other conditions that can cause similar features. These tests may include: Brain MRI MR angiogram (MRA) Electroencephalogram 24-hour heart monitor Specialized blood tests