The Genetics Of Duchenne Muscular Dystrophy

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The Genetics of Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is the most common genetic disease fatal in children, it is a severe and rapidly progressive muscle disease with symptoms that first become evident due to the affected child showing early motor developmental delay; for example, presentation of Gower’s sign, a diagnostic indicator of proximal muscle weakness characterised by the affected having to “walk” their hands up their body to stand due to little strength being present in the lower limb.
By thirteen years of age the proximal muscle weakness is so advanced that the affected will be wheelchair dependent, and as involuntary muscles (cardiac and respiratory) grow more affected towards the age of eighteen, cardiomyopathy and respiratory diseases are common and often cause death, with very few survivors past the age of thirty and the average lifespan at twenty-five.
The cause of Duchenne Muscular Dystrophy is the occurrence of mutations in the Dystrophin (DMD) gene. The cytogenetic location off the DMD gene is Xp21.2; meaning at location 21.2 on the short arm of the X chromosome from base pair 31,119,219 to base pair 33,339,609. DMD is the biggest human gene currently known and instructs for the production of a 427 kDa protein by the same name. The dystrophin protein is part of the dystrophin associated protein complex which is expressed at the sarcolema and anchors muscle cellcytoskeletons to the extracellular matrix in skeletal and cardiac muscle,

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