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What is (are) SHORT syndrome ?
SHORT syndrome is a condition characterized by multiple abnormalities that affect several parts of the body. The term SHORT is an acronym with each letter representing a common feature in affected individuals: (S) short stature; (H) hyperextensibility of joints and/or hernia (inguinal); (O) ocular depression (deep-set ...
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What causes Shingles ?
Shingles is caused by a virus called the varicella-zoster virus -- the one that gave you chickenpox when you were a child. As you recovered from chickenpox, the sores and other symptoms healed, but the virus remained. It is with you for life. Researchers know that the varicella-zoster virus behaves differently from oth...
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What are the symptoms of Facio thoraco genital syndrome ?
What are the signs and symptoms of Facio thoraco genital syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Facio thoraco genital 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 Med...
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What is (are) Calciphylaxis ?
Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes it to die (necrosis). The most obvious and frequ...
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What are the symptoms of Heart Valve Disease ?
Major Signs and Symptoms The main sign of heart valve disease is an unusual heartbeat sound called a heart murmur. Your doctor can hear a heart murmur with a stethoscope. However, many people have heart murmurs without having heart valve disease or any other heart problems. Others may ...
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What are the treatments for Parkinson's Disease ?
Yes. Other medications available to treat some symptoms and stages of Parkinson's disease include direct dopamine agonists, MAO-B inhibitors, COMT inhibitors, an anti-viral drug, and anticholinergics. Direct dopamine agonists are drugs that mimic the role of dopamine in the brain. They can be used in the early stages o...
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What is (are) Balance Problems ?
Have you ever felt dizzy, lightheaded, or as if the room were spinning around you? These can be very troublesome sensations. If the feeling happens often, it could be a sign of a balance problem. Balance problems are among the most common reasons that older adults seek help from a doctor. In 2008, an estimated 14.8 per...
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Who is at risk for ? ?
Measles: Make Sure Your Child Is Protected with MMR Vaccine Measles starts with a fever. Soon after, it causes a cough, runny nose, and red eyes. Then a rash of tiny, red spots breaks out. Measles can be serious for young children. Learn about protecting your child from measles with MMR vaccine. Protect your child at e...
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What is (are) Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ?
Key Points - Childhood acute myeloid leukemia (AML) is a type of cancer in which the bone marrow makes a large number of abnormal blood cells. - Leukemia and other diseases of the blood and bone marrow may affect red blood cells, white blood cells, and platelets. - Other myeloid diseases can a...
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What is the outlook for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?
The prognosis is dependent upon the specific syndrome, however, some of the syndromes are fatal if left untreated.
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How many people are affected by Krabbe disease ?
In the United States, Krabbe disease affects about 1 in 100,000 individuals. A higher incidence (6 cases per 1,000 people) has been reported in a few isolated communities in Israel.
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What is (are) dopamine transporter deficiency syndrome ?
Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with movement (dystonia and parkinsonism, described below) usually start in infancy and worsen over time. However, the features of the condition sometimes do not appe...
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What is (are) Infectious Diseases ?
Infectious diseases kill more people worldwide than any other single cause. Infectious diseases are caused by germs. Germs are tiny living things that are found everywhere - in air, soil and water. You can get infected by touching, eating, drinking or breathing something that contains a germ. Germs can also spread thro...
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How many people are affected by myosin storage myopathy ?
Myosin storage myopathy is a rare condition. Its prevalence is unknown.
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What to do for Kidney Failure: Choosing a Treatment That's Right for You ?
All of the treatment options for kidney failure require changes and restrictions in your diet. Hemodialysis Hemodialysis has the most restrictions. You should watch how much water and other liquids you get from food and drinks and avoid getting too much sodium, often from salt; potassi...
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What are the symptoms of Bile acid synthesis defect, congenital, 4 ?
What are the signs and symptoms of Bile acid synthesis defect, congenital, 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Bile acid synthesis defect, congenital, 4. If the information is available, the table below includes how often the symptom is seen in people with this conditio...
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What are the genetic changes related to 3-beta-hydroxysteroid dehydrogenase deficiency ?
Mutations in the HSD3B2 gene cause 3-HSD deficiency. The HSD3B2 gene provides instructions for making the 3-HSD enzyme. This enzyme is found in the gonads and adrenal glands. The 3-HSD enzyme is involved in the production of many hormones, including cortisol, aldosterone, androgens, and estrogen. Cortisol has numerous ...
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What is (are) Arts syndrome ?
Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities ...
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How to diagnose Diagnosis of Diabetes and Prediabetes ?
Blood tests are used to diagnosis diabetes and prediabetes because early in the disease type 2 diabetes may have no symptoms. All diabetes blood tests involve drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. Lab analysis of blood is needed to ensure te...
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What is (are) Melioidosis ?
Melioidosis is an infectious disease caused by the bacteria Burkholderia pseudomallei that are commonly found in the soil and water. Melioidosis is a rare disease in the United States, but it is common in tropical or subtropical areas of the world, including Southeast Asia, Africa, and Australia. The signs and symptoms...
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How many people are affected by glycogen storage disease type IV ?
GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals worldwide. Type IV accounts for roughly 3 percent of all cases of glycogen storage disease.
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what research (or clinical trials) is being done for Menkes Disease ?
Recent research sponsored by the NINDS developed a blood test that could be given to newborns at risk for Menkes disease based on a positive family history for the disorder or other indications. The test measures 4 different chemicals in the blood and, depending upon their levels, can accurately diagnose the presence o...
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What are the treatments for Donohue syndrome ?
These resources address the diagnosis or management of Donohue syndrome: - Genetic Testing Registry: Leprechaunism syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic ...
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What is (are) Microgastria limb reduction defect ?
Microgastria limb reduction defect is a rare disorder with less than 60 previously reported cases. Children born with this condition have a small stomach (microgastria) and limb abnormalities. Symptoms may include vomiting, aspiration pneumonia and growth problems. Abnormalities involving the heart, lungs, kidney and g...
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What are the symptoms of Marfan Syndrome ?
Marfan syndrome can affect many parts of the body. As a result, the signs and symptoms of the disorder vary from person to person, even in the same family. Marfan complications also vary, depending on how the condition affects your body. Marfan syndrome most often affects the connective tissue of the h...
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Is Galloway-Mowat syndrome inherited ?
How is Galloway-Mowat syndrome inherited? Galloway-Mowat syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as...
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Is Myhre syndrome inherited ?
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.
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What are the symptoms of Familial multiple trichodiscomas ?
What are the signs and symptoms of Familial multiple trichodiscomas? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial multiple trichodiscomas. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the...
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What causes Diabetic Heart Disease ?
At least four complex processes, alone or combined, can lead to diabetic heart disease (DHD). They include coronary atherosclerosis; metabolic syndrome; insulin resistance in people who have type 2 diabetes; and the interaction of coronary heart disease (CHD), high blood pressure, and diabetes. Researc...
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Is familial adenomatous polyposis inherited ?
Familial adenomatous polyposis can have different inheritance patterns. When familial adenomatous polyposis results from mutations in the APC gene, it 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 per...
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Who is at risk for Neuroblastoma? ?
Key Points - Screening tests have risks. - The risks of neuroblastoma screening include the following: - Neuroblastoma may be overdiagnosed. - False-negative test results can occur. - False-positive test results can occur. Scr...
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What is (are) I Can Lower My Risk for Type 2 Diabetes: A Guide for American Indians ?
Diabetes causes blood glucose levels to be above normal. People with diabetes have problems converting food to energy. After food is eaten, it is broken down into a sugar called glucose. Glucose is then carried by the blood to cells throughout the body. The hormone insulin, made in the pancreas, helps the body change b...
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What are the treatments for Anxiety Disorders ?
Most insurance plans, including health maintenance organizations (HMOs), will cover treatment for anxiety disorders. Check with your insurance company and find out. If you dont have insurance, the Health and Human Services division of your county government may offer mental health care at a public mental health center ...
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what research (or clinical trials) is being done for Urethral Cancer ?
New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. For some patients, taking part ...
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What is (are) primary macronodular adrenal hyperplasia ?
Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargeme...
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What are the treatments for Thoracic Outlet Syndrome ?
Treatment begins with exercise programs and physical therapy to strengthen chest muscles, restore normal posture, and relieve compression by increasing the space of the area the nerve passes through. Doctors will often prescribe non-steroidal anti-inflammatory drugs (such as naproxen or ibuprofen) for pain. Other medic...
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What are the symptoms of Neuroblastoma ?
What are the signs and symptoms of Neuroblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroblastoma. 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 loo...
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Is genitopatellar syndrome inherited ?
This condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations in the gene and have occurred in people with no history of the disorder in their family.
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How to diagnose IgA Nephropathy ?
Currently, health care providers do not use blood or urine tests as reliable ways to diagnose IgA nephropathy; therefore, the diagnosis of IgA nephropathy requires a kidney biopsy. A kidney biopsy is a procedure that involves taking a small piece of kidney tissue for examination with a microscope. A he...
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What is the outlook for Uterine Sarcoma ?
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...
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What are the treatments for Peters plus syndrome ?
What treatment is available for Peters plus syndrome? Treatment varies from person to person and is based on the extent of the disease. Once a person has been diagnosed with Peters plus syndrome, the following evaluations are recommended : Eye examination Growth hormone testing Developmental assessment Heart examinatio...
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What is (are) Idiopathic inflammatory myopathy ?
Idiopathic inflammatory myopathy refers to a group of conditions that affect the skeletal muscles (muscles used for movement). Although the condition can be diagnosed at any age, idiopathic inflammatory myopathy most commonly occurs in adults between ages 40 and 60 years or in children between ages 5 and 15 years. Sign...
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What are the symptoms of Lymphomatoid papulosis ?
What are the early signs of lymphomatoid papulosis? Patients may present with multiple skin papules (raised bumps) that can occur anywhere on the body but most often on the chest, stomach, back, arms, and legs. The papules appear in crops and may be mildly itchy. They may develop into blood or pus-filled blisters that ...
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What is (are) Usher syndrome, type 2C ?
Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. A...
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Is Familial hypercholesterolemia inherited ?
How is familial hypercholesterolemia inherited? Familial hypercholesterolemia (FH) is usually inherited in an autosomal dominant manner (in which case it is referred to as heterozygous FH). Individuals inherit two copies of each gene (one from each parent). In an autosomal dominant condition, having only one abnormal (...
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What are the symptoms of Bamforth syndrome ?
What are the signs and symptoms of Bamforth syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bamforth 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 Dictionar...
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What are the treatments for Benign schwannoma ?
How might schwannoma be treated? The best treatment options for schwannoma depends on several factors, including the size and location of the tumor; whether the tumor is benign or malignant (cancerous); and the age and overall health of the affected person. For example, standard treatment for benign schwannomas is surg...
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How to diagnose Pyruvate dehydrogenase deficiency ?
Is genetic testing available for pyruvate dehydrogenase deficiency? Genetic testing is available for pyruvate dehydrogenase deficiency. GeneTests lists the names of laboratories that are performing genetic testing for pyruvate dehydrogenase deficiency. To view the contact information for the clinical laboratories condu...
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Is Hepatic encephalopathy inherited ?
Is hepatic encephalopathy inherited? Hepatic encephalopathy is not an inherited condition, so an individual who has it cannot pass it on to his/her children. It is brought on by chronic liver failure, particularly in alcoholics with cirrhosis. Although there are many theories and possibilities regarding what exactly ca...
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What is (are) Staphylococcal Infections ?
Staph is short for Staphylococcus, a type of bacteria. There are over 30 types, but Staphylococcus aureus causes most staph infections (pronounced "staff infections"), including - Skin infections - Pneumonia - Food poisoning - Toxic shock syndrome - Blood poisoning (bacteremia) Skin infections a...
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what research (or clinical trials) is being done for Problems with Taste ?
The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - prevent...
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Is hereditary myopathy with early respiratory failure inherited ?
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.
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How many people are affected by myasthenia gravis ?
Myasthenia gravis affects about 20 per 100,000 people worldwide. The prevalence has been increasing in recent decades, which likely results from earlier diagnosis and better treatments leading to longer lifespans for affected individuals.
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What is (are) Itching ?
Itching is skin tingling or irritation that makes you want to scratch the itchy area. It's a symptom of many health conditions. Common causes are - Allergic reactions - Eczema - Dry skin - Insect bites and stings - Irritating chemicals - Parasites such as pinworms, scabies, head and body lic...
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What is (are) Pompe Disease ?
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used ...
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What are the genetic changes related to CATSPER1-related nonsyndromic male infertility ?
Mutations in the CATSPER1 gene cause CATSPER1-related nonsyndromic male infertility. The CATSPER1 gene provides instructions for producing a protein that is found in the tail of sperm cells. The CATSPER1 protein is involved in the movement of the sperm tail, which propels the sperm forward and is required for sperm cel...
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What are the genetic changes related to carnitine-acylcarnitine translocase deficiency ?
Mutations in the SLC25A20 gene cause CACT deficiency. This gene provides instructions for making a protein called carnitine-acylcarnitine translocase (CACT). This protein is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation ta...
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What are the treatments for infantile neuronal ceroid lipofuscinosis ?
These resources address the diagnosis or management of infantile neuronal ceroid lipofuscinosis: - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 1 - Genetic Testing Registry: Infantile neuronal ceroid lipofuscinosis These resources from MedlinePlus offer information about the diagnosis and management of ...
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What are the treatments for LAMA2-related muscular dystrophy ?
These resources address the diagnosis or management of LAMA2-related muscular dystrophy: - Boston Children's Hospital: Treatment and Care for Muscular Dystrophy - Gene Review: Gene Review: LAMA2-Related Muscular Dystrophy - Genetic Testing Registry: Congenital muscular dystrophy due to partial LAMA2 deficiency - Ge...
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What causes Familial hypertrophic cardiomyopathy ?
What causes familial hypertrophic cardiomyopathy? Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in any of several genes. The genes most commonly responsible are the MYH7, MYBPC3, TNNT2, and TNNI3 genes. Other genes that have not yet been identified may also be responsible for familial HCM. The genes...
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What is (are) galactosemia ?
Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an ...
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What are the symptoms of Mucopolysaccharidosis type VI ?
What are the signs and symptoms of Mucopolysaccharidosis type VI? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VI. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli...
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What is (are) Abortion ?
An abortion is a procedure to end a pregnancy. It uses medicine or surgery to remove the embryo or fetus and placenta from the uterus. The procedure is done by a licensed health care professional. The decision to end a pregnancy is very personal. If you are thinking of having an abortion, most healthcare providers a...
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What is (are) Bart-Pumphrey syndrome ?
Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on...
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What is (are) CHOPS syndrome ?
CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abn...
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Who is at risk for Atrial Fibrillation? ?
Atrial fibrillation (AF) affects millions of people, and the number is rising. Men are more likely than women to have the condition. In the United States, AF is more common among Whites than African Americans or Hispanic Americans. The risk of AF increases as you age. This is mostly because your risk f...
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what research (or clinical trials) is being done for Essential Tremor ?
The National Institute of Neurological Disorders and Stroke, a unit of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nation's leading federal funder of research on disorders of the brain and nervous system. The NINDS sponsors research on tremor both at its facil...
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Is Opitz G/BBB syndrome inherited ?
How is Opitz G/BBB syndrome inherited? Opitz G/BBB syndrome often has an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes (the other sex chromosome is the Y chromosome). In most cases, males e...
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Is X-linked myotubular myopathy inherited ?
X-linked myotubular myopathy is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In femal...
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What is (are) Balance Problems ?
Have you ever felt dizzy, lightheaded, or as if the room is spinning around you? If the feeling happens often, it could be a sign of a balance problem. Balance problems can make you feel unsteady or as if you were moving, spinning, or floating. They are one cause of falls and fall-related injuries, such as hip fracture...
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What is (are) Ebstein's anomaly ?
Ebstein's anomaly is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The backup of blood flow can lead to heart swelling and fluid buildup in the...
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What are the treatments for vitelliform macular dystrophy ?
These resources address the diagnosis or management of vitelliform macular dystrophy: - Gene Review: Gene Review: Best Vitelliform Macular Dystrophy - Genetic Testing Registry: Macular dystrophy, vitelliform, adult-onset - Genetic Testing Registry: Vitelliform dystrophy - MedlinePlus Encyclopedia: Macula (image) ...
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What are the treatments for Adolescent idiopathic scoliosis ?
How might adolescent idiopathic scoliosis be treated? Treatment of adolescent idiopathic scoliosis may involve observation, bracing and/or surgery. Treatment recommendations are generally dependent upon the risk of curve progression. Curves progress most during the rapid growth period of the patient (adolescent or pre-...
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What is (are) CATSPER1-related nonsyndromic male infertility ?
CATSPER1-related nonsyndromic male infertility is a condition that affects the function of sperm, leading to an inability to father children. Males with this condition produce sperm that have decreased movement (motility). Affected men may also produce a smaller than usual number of sperm cells or sperm cells that are ...
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What is (are) Multiple endocrine neoplasia type 2A ?
Multiple endocrine neoplasia type 2A (MEN 2A) is is an inherited disorder caused by mutations in the RET gene. Individuals with MEN 2A are at high risk of developing medullary carcinoma of the thyroid. About 50% will develop pheochromocytoma, a tumor of the adrenal glands which may increase blood pressure. Individuals ...
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What are the treatments for Axial spondylometaphyseal dysplasia ?
How might axial spondylometaphyseal dysplasia be treated? Is growth hormone therapy an option? Is surgery helpful? Can the vision problems be corrected? There is no specific treatment for axial spondylometaphyseal dysplasia. Symptoms such as lung infections, breathing difficulties, coxa vara, scoliosis, retinitis pigme...
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What are the treatments for Mosaic trisomy 9 ?
How might mosaic trisomy 9 be treated? Because mosaic trisomy 9 affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, children with...
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what research (or clinical trials) is being done for Spinal Muscular Atrophy ?
Between 2003 and 2012, the NINDS piloted the Spinal Muscular Atrophy Project to expedite therapeutics development for this hereditary neurodegenerative disease. The Project was designed to accelerate the research process by identifying drugs that increase the level of SMN protein in cultured cells, so that they could b...
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What is (are) Motion Sickness ?
Motion sickness is a common problem in people traveling by car, train, airplanes and especially boats. Motion sickness can start suddenly, with a queasy feeling and cold sweats. It can then lead to dizziness and nausea and vomiting. Your brain senses movement by getting signals from your inner ears, eyes, muscles an...
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Do you have information about Healthy Aging
Summary : People in the U.S. are living longer than ever before. Many seniors live active and healthy lives. But there's no getting around one thing: as we age, our bodies and minds change. There are things you can do to stay healthy and active as you age: - Eat a balanced diet - Keep your mind and body active...
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How to prevent Parasites - Schistosomiasis ?
Prevention No vaccine is available. The best way to prevent schistosomiasis is to take the following steps if you are visiting or live in an area where schistosomiasis is transmitted: - Avoid swimming or wading in freshwater when you are in countries in which schistosomiasis occurs. Swimming in the ...
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What are the treatments for Parasites - Fascioliasis (Fasciola Infection) ?
The first step is to make sure the diagnosis is correct. For more information, patients should consult their health care provider. Health care providers may consult with CDC staff about the diagnosis and treatment of fascioliasis. The drug of choice is triclabendazole. In the United States, this drug is available ...
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What is (are) Fraser syndrome ?
Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the genitali...
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What are the treatments for Gum (Periodontal) Disease ?
Treatments may include deep cleaning, medications, surgery, and bone and tissue grafts.
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How to diagnose Alopecia universalis ?
How is alopecia universalis diagnosed? A diagnosis of alopecia universalis is usually based on the signs and symptoms present in each person. In rare cases, a scalp biopsy may be needed to confirm the diagnosis.
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Who is at risk for Lip and Oral Cavity Cancer? ?
Tobacco and alcohol use can affect the risk of lip and oral cavity cancer. 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 yo...
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Is restless legs syndrome inherited ?
The inheritance pattern of restless legs syndrome is usually unclear because many genetic and environmental factors can be involved. The disorder often runs in families: 40 to 90 percent of affected individuals report having at least one affected first-degree relative, such as a parent or sibling, and many families hav...
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Is Hemifacial microsomia inherited ?
Is hemifacial microsomia inherited? Hemifacial 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...
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How many people are affected by trisomy 18 ?
Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more common in pregnancy, but many affected fetuses do not survive to term. Although women of all ages can have a child with trisomy 18, the chance of having a child with this condition increases as a woman gets older.
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What is (are) Prediabetes ?
Prediabetes means you have blood glucose, or blood sugar, levels that are higher than normal but not high enough to be called diabetes. Glucose comes from the foods you eat. Too much glucose in your blood can damage your body over time. If you have prediabetes, you are more likely to develop type 2 diabetes, heart dise...
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What are the genetic changes related to tarsal-carpal coalition syndrome ?
Tarsal-carpal coalition syndrome is caused by mutations in the NOG gene, which provides instructions for making a protein called noggin. This protein plays an important role in proper bone and joint development by blocking (inhibiting) signals that stimulate bone formation. The noggin protein attaches (binds) to protei...
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What is the outlook for Urethral Cancer ?
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Where the cancer formed in the urethra. - Whether the cancer has spread through the mucosa lining the urethra to nearby tissue, to lymph nodes, or ...
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How to prevent COPD ?
If you smoke, the most important thing you can do to prevent more lung damage is to stop smoking. It is also important to stay away from people who smoke and places where you know there will be smokers. Avoid exposure to pollutants like dust, fumes, and poor air quality, and take precautions to prevent flu and pneumoni...
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What is (are) Acute febrile neutrophilic dermatosis ?
Acute febrile neutrophilic dermatosis - also known as Sweet syndrome - is a skin condition marked by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms. Although middle-aged women are most likely to develop this condition, it may also affect men, ...
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What are the symptoms of Ebstein's anomaly ?
What are the signs and symptoms of Ebstein's anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ebstein's anomaly. 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 Dictionar...
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What is (are) Leukemia ?
Biological therapy is a treatment that uses a person's own immune system to fight leukemia. This therapy uses special substances to stimulate the immune system's ability to fight cancer. Some patients with chronic lymphocytic leukemia receive monoclonal antibodies, which are man-made proteins that can identify leukemia...
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How many people are affected by ZAP70-related severe combined immunodeficiency ?
ZAP70-related SCID is a rare disorder. Only about 20 affected individuals have been identified. The prevalence of SCID from all genetic causes combined is approximately 1 in 50,000.
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What is (are) Hypertonia ?
Hypertonia is a condition in which there is too much muscle tone so that arms or legs, for example, are stiff and difficult to move. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscle to contract. Hypertonia happens when the regions of the brain or spinal cord that control ...
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How many people are affected by benign essential blepharospasm ?
Benign essential blepharospasm affects an estimated 20,000 to 50,000 people in the United States. For unknown reasons, it occurs in women more than twice as often as it occurs in men.
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Is color vision deficiency inherited ?
Red-green color vision defects and blue cone monochromacy are inherited in an X-linked recessive pattern. The OPN1LW and OPN1MW genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one genetic change in each cell is sufficient to cause the condition....
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