Reserch and Treatment of Muscular Dystrophy Disease

Disease

Muscular dystrophy is a disease characterized by the weakness and deterioration of skeletal muscles. There are over 30 different forms of muscular dystrophy but the two most common are Duchenne and Becker Muscular Dystrophy (Baroncelli). These two forms of the disease are sex linked, affecting primarily males. A male usually inherits a faulty X chromosome from his mother and receives no other X chromosome to offset the faulty one (males are XY). Affected persons have difficulty performing daily tasks and eventually lose the ability to walk. However, a faulty X chromosome inherited by a female can be offset by a normal X chromosome inherited from the other parent (females are XX). Females are the typical carrier of the disease which mainly becomes expressed when their sons inherit a faulty X chromosome. Both forms of muscular dystrophy result from mutations in the DMD gene which results in an inability to produce a functional or sufficient amount of dystrophin, the protein that strengthens and protects muscle fibers. Without effective dystrophin the muscle fibers weaken and di...