Brody disease
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Brody disease is a type of myopahty or "disease of muscle." Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called “ATP2A1,” for other cases the underlying genetic defect has not been identified.[1][2]
References
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Barohn RJ. Cecil Medicine, 23rd ed. In: . Muscle Diseases. Philadelphia, PA:Saunders; 2007:
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Rose M, Griggs RC. Textbook of Clinical Neurology, 3rd ed. In: . Hereditary Nondegernative Neuromuscular Disease. Philadelphia PA:Saunders; 2007:
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- More Detailed Information (Found: 3 Resources)
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Brody disease. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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PubMed is a searchable database of medical literature and lists journal articles that discuss Brody disease. Click on the link to view a sample search on this topic.
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Contact a Family is a UK-wide charity providing advice, information and support to individuals affected by various health conditions. They enable parents, families, and individuals to get in contact with others, on a local, national, and international basis. Each year they reach at least 275,000 families. Click on Contact a Family to view the Making Contact page for Brody disease.
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
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