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What is the outlook for Motor Neuron Diseases ? | Prognosis varies depending on the type of MND and the age of onset. Some MNDs, such as primary lateral sclerosis and Kennedy disease, are not fatal and progress slowly. Patients with spinal muscular atrophy may appear to be stable for long periods, but improvement should not be expected. Some MNDs, such as ALS and some... | [
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How many people are affected by enlarged parietal foramina ? | The prevalence of enlarged parietal foramina is estimated to be 1 in 15,000 to 50,000 individuals. | [
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What is (are) Bartter syndrome ? | Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and g... | [
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What is (are) Anxiety Disorders ? | Occasional anxiety is a normal part of life. You might feel anxious when faced with a problem at work, before taking a test, or making an important decision. However, anxiety disorders involve more than temporary worry or fear. For a person with an anxiety disorder, the anxiety does not go away and can get worse over t... | [
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Is fish-eye disease inherited ? | 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. | [
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Is Myhre syndrome inherited ? | How 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. Most cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in... | [
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Is Legius 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 is (are) GM1 gangliosidosis type 3 ? | GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult ons... | [
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What are the symptoms of Hereditary angioedema ? | What are the signs and symptoms of Hereditary angioedema? Hereditary angioedema is characterized by recurrent episodes of severe swelling (angioedema). The most commonly involved areas of the body are the limbs, face, intestinal tract, and airway. While minor trauma or stress may trigger an attack, swelling often occur... | [
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How many people are affected by carnitine palmitoyltransferase II deficiency ? | CPT II deficiency is a rare disorder. The lethal neonatal form has been described in at least 18 families, while the severe infantile hepatocardiomuscular form has been identified in approximately 30 families. The myopathic form occurs most frequently, with more than 300 reported cases. | [
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What are the treatments for mucolipidosis II alpha/beta ? | These resources address the diagnosis or management of mucolipidosis II alpha/beta: - Gene Review: Gene Review: Mucolipidosis II - Genetic Testing Registry: I cell disease - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia: Kyphosis These resources f... | [
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What causes Diverticular Disease ? | Scientists are not certain what causes diverticulosis and diverticular disease. For more than 50 years, the most widely accepted theory was that a low-fiber diet led to diverticulosis and diverticular disease. Diverticulosis and diverticular disease were first noticed in the United States in the early 1900s, around the... | [
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What is (are) Legg-Calv-Perthes disease ? | 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 o... | [
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What is (are) pachyonychia congenita ? | Pachyonychia congenita is a condition that primarily affects the nails and skin. The signs and symptoms of this condition usually become apparent within the first few months of life. Almost everyone with pachyonychia congenita has hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick a... | [
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What are the treatments for Frasier syndrome ? | These resources address the diagnosis or management of Frasier syndrome: - Genetic Testing Registry: Frasier syndrome - MedlinePlus Encyclopedia: Focal Segmental Glomerulosclerosis - MedlinePlus Encyclopedia: Nephrotic Syndrome These resources from MedlinePlus offer information about the diagnosis and management o... | [
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What is (are) Friedreich ataxia ? | Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffne... | [
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What is (are) Bethlem myopathy ? | Bethlem myopathy is an inherited movement disorder characterized by progressive muscle weakness and joint stiffness (contractures) in the fingers, wrists, elbows, and ankles. Due to a progressive course, up to two-thirds of people with this condition require a walker or wheelchair after the age of 50. Bethlem myopathy ... | [
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What is (are) Liver Diseases ? | Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis A, hepatitis B, and hepatitis C. Others can be the result of drugs, poisons or drinking too much alcohol. If the liver... | [
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How many people are affected by Senior-Lken syndrome ? | Senior-Lken syndrome is a rare disorder, with an estimated prevalence of about 1 in 1 million people worldwide. Only a few families with the condition have been described in the medical literature. | [
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What is (are) Urinary Tract Infections ? | The urinary system is the body's drainage system for removing wastes and extra water. It includes two kidneys, two ureters, a bladder, and a urethra. Urinary tract infections (UTIs) are the second most common type of infection in the body. You may have a UTI if you notice - Pain or burning when you urinate ... | [
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What is (are) Oral lichen planus ? | Oral lichen planus is a inflammatory condition that affects the inside of the mouth. Signs and symptoms include patches of fine white lines and dots most commonly in the inside of the cheeks, gums, and/or tongue. Most people with lichen planus experience no to few symptoms, others may have painful sores or ulcers in t... | [
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How many people are affected by isolated Pierre Robin sequence ? | Isolated Pierre Robin sequence affects an estimated 1 in 8,500 to 14,000 people. | [
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What are the treatments for Children's interstitial lung disease ? | How might chILD be treated? There is no single treatment for interstitial lung diseases in children. Different forms of chILD require different treatments and support depending on the condition. The goals of treatment for chILD is to relieve symptoms, provide support to maximize growth and development, and to prevent ... | [
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What are the treatments for lamellar ichthyosis ? | These resources address the diagnosis or management of lamellar ichthyosis: - Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 3 - Genetic Testing Regis... | [
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What is (are) Dry Mouth ? | For information about the clinical trial on this topic, visit: http://www.clinicaltrials.gov/ct/show/NCT00372320?order=1. If you would like to read an interview with Dr. Bruce Baum, the study's principal investigator, click on: http://www.nidcr.nih.gov/Research/ ResearchResults/InterviewsOHR/TIS032007.htm. | [
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What causes Hypersensitivity Pneumonitis ? | Repeatedly breathing in foreign substances can cause hypersensitivity pneumonitis (HP). Examples of these substances include molds, dusts, and chemicals. (Mold often is the cause of HP.) These substances also are known as antigens.
Over time, your lungs can become sensitive to antigens. If this happens... | [
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What are the symptoms of Thumb stiff brachydactyly mental retardation ? | What are the signs and symptoms of Thumb stiff brachydactyly mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb stiff brachydactyly mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this co... | [
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Is Lynch syndrome inherited ? | Is Lynch syndrome an inherited condition? Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not ... | [
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Who is at risk for Parasites - Zoonotic Hookworm? ? | Dog and cat hookworms are found throughout the world, especially in warmer climates. In the United States, zoonotic hookworms are found everywhere but more commonly along the East Coast than the West Coast. Worldwide, zoonotic hookworms are found in tropical and subtropical regions where the parasite is better able to ... | [
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Is retinal arterial macroaneurysm with supravalvular pulmonic stenosis inherited ? | 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. | [
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What are the symptoms of Epiphyseal dysplasia multiple with early-onset diabetes mellitus ? | What are the signs and symptoms of Epiphyseal dysplasia multiple with early-onset diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia multiple with early-onset diabetes mellitus. If the information is available, the table below includes how often th... | [
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What are the treatments for Hemoglobin E disease ? | How might hemoglobin E disease be treated? Treatment is usually not necessary. Folic acid supplements may be prescribed to help the body produce normal red blood cells and improve symptoms of anemia. People with hemoglobin E disease can expect to lead a normal life. | [
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What are the treatments for Hydrocephalus due to congenital stenosis of aqueduct of sylvius ? | How might hydrocephalus due to congenital stenosis of aqueduct of sylvius be treated? The treatment of hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is based on the signs and symptoms present in each person. For example, hydrocephalus is typically treated with shunt surgery. Special education a... | [
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What are the treatments for Proteus syndrome ? | These resources address the diagnosis or management of Proteus syndrome: - Gene Review: Gene Review: Proteus Syndrome - Genetic Testing Registry: Proteus syndrome - Proteus Syndrome Foundation: Diagnostic Criteria and FAQs These resources from MedlinePlus offer information about the diagnosis and management of var... | [
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What is the outlook for Arachnoid Cysts ? | Untreated, arachnoid cysts may cause permanent severe neurological damage when progressive expansion of the cyst(s) or bleeding into the cyst injures the brain or spinal cord. Symptoms usually resolve or improve with treatment. | [
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What is (are) GM1 gangliosidosis ? | GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap s... | [
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What are the symptoms of Osteoporosis ? | Fractures -- A Possible Warning Sign Osteoporosis does not have any symptoms until a fracture occurs. Women and men with osteoporosis most often break bones in the hip, spine, and wrist. But any fracture in an older person could be a warning sign that the bone is weaker than optimal. Some people may be unaware that the... | [
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What are the symptoms of Pili torti ? | What are the signs and symptoms of Pili torti? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti. 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 t... | [
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How many people are affected by DMD-associated dilated cardiomyopathy ? | DMD-associated dilated cardiomyopathy appears to be an uncommon condition, although its prevalence is unknown. | [
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What are the symptoms of Colorectal Cancer ? | Possible signs of colorectal cancer include: - a change in the frequency of bowel movements - diarrhea, constipation, or feeling that the bowel does not empty completely - either bright red or very dark blood in the stool a change in the frequency of bowel movements diarrhea, constipation, or feeling that the bowel... | [
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What are the treatments for Olivopontocerebellar Atrophy ? | There is no specific treatmentfor OPCA. Physicians may try different medications to treat the ataxia, tremor, and rigidity that are associated with the disorder. Other treatments are directed at specific symptoms. Stiffness, spasms, sleep disorders, depression, and tremor may be improved with medication. A physical the... | [
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What are the treatments for Saethre-Chotzen syndrome ? | These resources address the diagnosis or management of Saethre-Chotzen syndrome: - Gene Review: Gene Review: Saethre-Chotzen Syndrome - Genetic Testing Registry: Robinow Sorauf syndrome - Genetic Testing Registry: Saethre-Chotzen syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Sku... | [
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What is the outlook for Empty Sella Syndrome ? | ESS is not a life-threatening condition. Most often, and particularly among those with primary ESS, the disorder does not cause health problems and does not affect life expectancy. | [
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What is (are) X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ? | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym XMEN) is a disorder that affects the immune system in males. In XMEN, certain types of immune system cells called T cells are reduced in number or do not function properly. Normally these cells r... | [
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How many people are affected by spondyloenchondrodysplasia with immune dysregulation ? | SPENCDI appears to be a rare condition, although its prevalence is unknown. | [
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What are the genetic changes related to multiple sclerosis ? | Although the cause of multiple sclerosis is unknown, variations in dozens of genes are thought to be involved in multiple sclerosis risk. Changes in the HLA-DRB1 gene are the strongest genetic risk factors for developing multiple sclerosis. Other factors associated with an increased risk of developing multiple sclerosi... | [
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Is isolated Pierre Robin sequence inherited ? | Isolated Pierre Robin sequence is usually not inherited. It typically results from new genetic changes and occurs in people with no history of the disorder in their family. When the condition is inherited, it follows an autosomal dominant pattern, which means one copy of the altered DNA in each cell is sufficient to ca... | [
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Do you have information about Artificial Limbs | Summary : People can lose all or part of an arm or leg for a number of reasons. Common ones include - Circulation problems from atherosclerosis or diabetes. They may cause you to need an amputation. - Traumatic injuries, including from traffic accidents and military combat - Cancer - Birth defects ... | [
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What are the treatments for Muckle-Wells syndrome ? | These resources address the diagnosis or management of Muckle-Wells syndrome: - Genetic Testing Registry: Familial amyloid nephropathy with urticaria AND deafness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy -... | [
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What is the outlook for Carpal Tunnel Syndrome ? | In general, carpal tunnel syndrome responds well to treatment, but less than half of individuals report their hand(s) feeling completely normal following surgery. Some residual numbness or weakness is common. At work, people can perform stretching exercises, take frequent rest breaks, wear splints to keep wrists straig... | [
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What causes Mntriers Disease ? | Scientists are unsure about what causes Mntriers disease; however, researchers think that most people acquire, rather than inherit, the disease. In extremely rare cases, siblings have developed Mntriers disease as children, suggesting a genetic link.
Studies suggest that people with Mntriers disease ha... | [
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How many people are affected by Glanzmann thrombasthenia ? | Glanzmann thrombasthenia is estimated to affect 1 in one million individuals worldwide, but may be more common in certain groups, including those of Romani ethnicity, particularly people within the French Manouche community. | [
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What are the treatments for Microscopic polyangiitis ? | What is the treatment for microscopic polyangiitis (MPA)? MPA is treated with medications that suppress the immune system, which can lower an individual's resistance to infections. There are a variety of immune suppressing medications that are used in MPA; however, resources state that a steroid (usually prednisone) an... | [
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What causes Congenital adrenal hyperplasia ? | What causes congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that can be caused by a change (mutation) in several different genes: 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene 3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutatio... | [
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What is (are) Lung Cancer ? | Key Points
- Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - Lung cancer is the leading cause of cancer death in the United States. - Different factors increase or decrease the risk of lung cancer.
... | [
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What is (are) short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ? | Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body. Most people with SHORT syndrome are small at birth and gain weight slowly in childhood. Affected adults tend to have sh... | [
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How many people are affected by Jackson-Weiss syndrome ? | Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown. | [
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Is Juvenile Huntington disease inherited ? | How is Juvenile Huntington disease (HD) inherited? Juvenile HD is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. As the altered HTT gene is passed fr... | [
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What is (are) Lactose Intolerance ? | Lactose intolerance means that you cannot digest foods with lactose in them. Lactose is the sugar found in milk and foods made with milk. After eating foods with lactose in them, you may feel sick to your stomach. You may also have - Gas - Diarrhea - Swelling in your stomach Your doctor may do a... | [
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What are the treatments for Hemorrhoids ? | At-home Treatments
Simple diet and lifestyle changes often reduce the swelling of hemorrhoids and relieve hemorrhoid symptoms. Eating a high-fiber diet can make stools softer and easier to pass, reducing the pressure on hemorrhoids caused by straining.
Fiber is a substance found in pla... | [
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How to diagnose Creutzfeldt-Jakob disease ? | How is Creutzfeldt-Jakob disease diagnosed? There is currently no single diagnostic test for Creutzfeldt-Jakob disease (CJD). When a doctor suspects CJD, the first concern is to rule out treatable forms of dementia such as encephalitis (inflammation of the brain) or chronic meningitis. A neurological examination will b... | [
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What are the treatments for Tardive Dyskinesia ? | Treatment is highly individualized. The first step is generally to stop or minimize the use of the neuroleptic drug, but this can be done only under close supervision of the physician.. However, for patients with a severe underlying condition this may not be a feasible option. Replacing the neuroleptic drug with substi... | [
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What is (are) Neurofibromatosis ? | The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves. These disorders cause tumors to grow on nerves and, less frequently, in the brain ... | [
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How to diagnose Imerslund-Grasbeck syndrome ? | How is Imerslund-Grasbeck syndrome diagnosed? The diagnosis of Imerslund-Grasbeck syndrome (IGS) is made after a series of tests are performed. Cobalamin deficiency is typically detected first, followed by showing that cobalamin is poorly absorbed (the main cause of cobalamin deficiency). Other known causes of vitamin ... | [
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What are the symptoms of Bardet-Biedl syndrome 6 ? | What are the signs and symptoms of Bardet-Biedl syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 6. 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 Medic... | [
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How many people are affected by multiminicore disease ? | Multiminicore disease is thought to be a rare disorder, although its incidence is unknown. | [
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what is yersiniosis for Yersinia ? | Yersiniosis is an infectious disease caused by a bacterium of the genus Yersinia. In the United States, most human illness is caused by one species, Y. enterocolitica. Infection with Y. enterocolitica can cause a variety of symptoms depending on the age of the person infected. Infection with Y. enterocolitica occurs mo... | [
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How many people are affected by Alpers-Huttenlocher syndrome ? | The prevalence of Alpers-Huttenlocher syndrome is approximately 1 in 100,000 individuals. | [
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What is (are) Cough ? | Coughing is a reflex that keeps your throat and airways clear. Although it can be annoying, coughing helps your body heal or protect itself. Coughs can be either acute or chronic. Acute coughs begin suddenly and usually last no more than 2 to 3 weeks. Acute coughs are the kind you most often get with a cold, flu, or ac... | [
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What causes Pulmonary Hypertension ? | Pulmonary hypertension (PH) begins with inflammation and changes in the cells that line your pulmonary arteries. Other factors also can affect the pulmonary arteries and cause PH. For example, the condition may develop if:
The walls of the arteries tighten.
The walls of the arteries ar... | [
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Who is at risk for Diabetic Retinopathy? ? | All people with diabetes -- both type 1 and type 2 -- are at risk for diabetic retinopathy. People with diabetes are also at increased risk for cataract and glaucoma. That's why everyone with diabetes should get a comprehensive dilated eye exam at least once a year. Between 40 to 45 percent of Americans diagnosed with ... | [
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What is (are) Creating a Family Health History ? | Common health problems that can run in a family include - Alzheimer's disease/dementia - arthritis - asthma - blood clots - cancer - depression - diabetes - heart disease - high cholesterol - high blood pressure - pregnancy losses and birth defects - stroke. Alzheimer's disease/dementia arthritis a... | [
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What are the symptoms of X-linked Charcot-Marie-Tooth disease type 5 ? | What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 5. If the information is available, the table below includes how often the symptom is seen in people with this cond... | [
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What are the treatments for Gas in the Digestive Tract ? | Gas can be treated by reducing swallowed air, making dietary changes, or taking over-the-counter or prescription medications. People who think they have too much gas can try to treat gas on their own before seeing a health care provider. Health care providers can provide advice about reducing gas and prescribe medicati... | [
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What is (are) Weaver syndrome ? | Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination... | [
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What are the genetic changes related to X-linked creatine deficiency ? | Mutations in the SLC6A8 gene cause X-linked creatine deficiency. The SLC6A8 gene provides instructions for making a protein that transports the compound creatine into cells. Creatine is needed for the body to store and use energy properly. SLC6A8 gene mutations impair the ability of the transporter protein to bring cr... | [
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How many people are affected by epidermolytic hyperkeratosis ? | Epidermolytic hyperkeratosis affects approximately 1 in 200,000 to 300,000 people worldwide. | [
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How to diagnose Desmoplastic infantile ganglioglioma ? | How are desmoplastic infantile gangliomas diagnosed? In addition to detecting the signs and symptoms commonly seen in DIGs, head CT scans and MRIs may reveal the presence of this type of brain tumor. | [
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What are the symptoms of Pinheiro Freire-Maia Miranda syndrome ? | What are the signs and symptoms of Pinheiro Freire-Maia Miranda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pinheiro Freire-Maia Miranda syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | [
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What are the symptoms of Testicular cancer ? | What are the signs and symptoms of Testicular cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Testicular cancer. 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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Is Donnai-Barrow syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In almost all cases, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition. ... | [
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What is (are) multiple epiphyseal dysplasia ? | Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have rela... | [
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What are the symptoms of Tricho-dento-osseous syndrome ? | What are the signs and symptoms of Tricho-dento-osseous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tricho-dento-osseous 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 Medli... | [
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What is (are) Proud syndrome ? | Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutation... | [
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What is (are) Inclusion body myositis ? | Inclusion body myositis (IBM) is an inflammatory myopathy that is characterized by chronic, progressive muscle inflammation and muscle weakness. Symptoms usually begin after the age of 50, although the condition can occur earlier. The onset of muscle weakness usually occurs over months or years. This condition affects ... | [
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How many people are affected by Muenke syndrome ? | Muenke syndrome occurs in about 1 in 30,000 newborns. This condition accounts for an estimated 8 percent of all cases of craniosynostosis. | [
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What is (are) Pyelonephritis: Kidney Infection ? | Pyelonephritis is a type of urinary tract infection (UTI) that affects one or both kidneys. | [
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How many people are affected by PPM-X syndrome ? | The prevalence of PPM-X syndrome is unknown. | [
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What is (are) Sandhoff Disease ? | Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff diseas... | [
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Is Imerslund-Grsbeck syndrome inherited ? | 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. | [
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What are the genetic changes related to Donohue syndrome ? | Donohue syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream.... | [
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What is (are) Gangliocytoma ? | Gangliocytoma is a rare type of central nervous system (CNS) tumor made up of mature neurons. Gangliocytomas may occur in all age groups but most often occur in people between the ages of 10 and 30. The most common site is the temporal lobe of the brain, but they can arise anywhere in the CNS including the cerebellum, ... | [
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What is (are) Simpson-Golabi-Behmel syndrome ? | Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. Th... | [
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Who is at risk for Aneurysm? ? | Certain factors put you at higher risk for an aortic aneurysm. These factors include:
Male gender. Men are more likely than women to have aortic aneurysms.
Age. The risk for abdominal aortic aneurysms increases as you get older. These aneurysms are more likely to occur in people who ar... | [
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How many people are affected by fragile X-associated primary ovarian insufficiency ? | An estimated 1 in 200 females has the genetic change that leads to FXPOI, although only about a quarter of them develop the condition. FXPOI accounts for about 4 to 6 percent of all cases of primary ovarian insufficiency in women. | [
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What are the genetic changes related to succinic semialdehyde dehydrogenase deficiency ? | Mutations in the ALDH5A1 gene cause succinic semialdehyde dehydrogenase deficiency. The ALDH5A1 gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme. This enzyme is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyri... | [
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Do you have information about Traveler's Health | Summary : Traveling can increase your chances of getting sick. A long flight can increase your risk for deep vein thrombosis. Once you arrive, it takes time to adjust to the water, food, and air in another place. Water in developing countries can contain viruses, bacteria, and parasites that cause stomach upset and dia... | [
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Is incontinentia pigmenti inherited ? | This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some ce... | [
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What is (are) Proteinuria ? | Proteinuriaalso called albuminuria or urine albuminis a condition in which urine contains an abnormal amount of protein. Albumin is the main protein in the blood. Proteins are the building blocks for all body parts, including muscles, bones, hair, and nails. Proteins in the blood also perform a number of important func... | [
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Do you have information about Caregivers | Summary : Caregivers provide help to another person in need. The person receiving care may be an adult - often a parent or a spouse - or a child with special medical needs. Some caregivers are family members. Others are paid. They do many things: - Shop for food and cook - Clean the house - Pay bills - G... | [
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