Duchenne muscular dystrophy
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Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by a mutation in a gene, called the DMD gene, which encodes the muscle protein dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles. Duchenne mucular dystrophy is inherited in an X-linked recessive fashion; however, it may also occur in people from families without a known family history of the condition. Individuals who have DMD have progressive loss of muscle function and weakness, which begins in the lower limbs.[1] In addition to the skeletal muscles used for movement, DMD may also affect the muscles of the heart.[2] There is no known cure for Duchenne muscular dystrophy. Treatment is aimed at control of symptoms to maximize the quality of life.[3]
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Duchenne muscular dystrophy. Click on the link to go to OMIM and review these resources.
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PubMed lists journal articles that discuss Duchenne muscular dystrophy. Click on the link to go to PubMed and review citations to these articles.
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Genetics Home Reference (GHR) contains a condition summary on Duchenne muscular dystrophy. Click on the link to go to GHR and review this summary.
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ClinicalTrials.gov lists trials that are studying or have studied Duchenne muscular dystrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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The DuchenneConnect Profile provides a patient registry, which gives people access to information about new treatments and trials, services like genetic testing and counseling, and regional and local resources for patients and their families.
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GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
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