Muscular Dystrophy

Muscular Dystrophy - Duchenne Muscular Dystrophy 1 What is...

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Unformatted text preview: Duchenne Muscular Dystrophy 1 What is it? n n n n Disease in which muscles become progressively progressively weaker Muscles eventually undergo necrosis and are replaced by adipose and connective tissues Lifespan is teens to late 20’s X-linked recessive disease n Generally only effects males 2 Causes n n Caused by a mutation in the dystrophin gene, which codes for the protein dystrophin. Dystrophin plays a role in the structure of the muscle n Connects cytoskeleton of the muscle fiber to the extracellular matrix 3 Symptoms n n n n n n n Appear early in life Muscle weakness Loss of muscle mass Lack of coordination Difficulty standing unaided Progressive crippling Paralysis 4 Diagnosis n Gowers signs n Tests: n n n Electromyography Genetic test Muscle biopsy 5 Treatment n n No cure Treat with physical therapy, surgery and some medications 6 ...
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