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Duchenne Muscular Dystrophy By: Callia Ricozzi
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What is Muscular Dystrophy? The deterioration of the muscles Dystrophin not made gene mutation Dystrophin is a protein in most muscle cells aids in movement Duchenne is the most severe form Affects 1 in 3500 male births Guillaume–Benjamin–Amand Duchenne
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Location Xp21.2 X chromosome, P arm at 21.2
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How is it inherited? X linked recessive inheritance Affects mostly boys Women usually carriers
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Symptoms Symptoms before age 6 Muscle weakness between 6 and 11 years Bone developmental problems Enlarged calf muscles Heart failure and irregular beat Respiratory disorders
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Living With it Can have difficulty sleeping Confined to a wheelchair at age 12 Usually only live to about age 30
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Activity Can’t participate in high impact sports Low impact aerobics are good Swimming is one of the best activities to participate in
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Physical features
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Diagnosis Muscular biopsy Blood exams for DMD levels Blood exams for elevated creatine kinase
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Treatment - No Cure Steroids for muscles Physical therapy Limb braces or a wheelchair Respiratory therapy
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Summary Deterioration of muscles X linked Recessive Wheelchair confinement at age 12 Life expectancy to age 30 Muscular biopsy and blood tests Physical therapy and low impact aerobics
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Works Cited "About Duchenne." EndDuchenne.Org. Parent Project Md, n.d. Web. 30 Nov 2013.. "Duchenne Muscular Dystrophy." Medline Plus. N.p., 01 Feb 2012. Web. 30 Nov 2013.. "Managing Daily Life." EndDuchenne.Org. N.p., n.d. Web. 30 Nov 2013.. Affected man in Wheelchair. N.d. Photograph. SugnesWeb. 30 Nov 2013.. Autosomal Recessive. N.d. Photograph. Inheritance patternsWeb. 30 Nov 2013.. H&E Stain. N.d. Photograph. NueuromuscularWeb. 30 Nov 2013.. Learning About Duchenne Muscular Dystrophy Lime Green. N.d. Photograph. Awareness-Jewlery.comWeb. 30 Nov 2013.. McKusick, Victor A.. "MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD." OMIM. ohns Hopkins University, 01 Oct 2013. Web. 30 Nov 2013.. Physical Deformities. N.d. Photograph. MEDCHROME MAGAZINEWeb. 30 Nov 2013.. United States. Center for Disease controll. Muscular Dystrophy. Web.. United States. National Institute for Neurologiclal Disorders and Stoke. NINDS Muscular Dystrophy Information Page. 2013. Web..
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