The genetics of the muscular dystrophies

Abstract

When one mentions muscular dystrophy, the mental picture that emerges is that of Duchene Muscular Dystrophy (DMD). In reality, the term muscular dystrophy refers to around six, heterogenous groups of inherited disorders characterised by progressive muscle wasting and weakness. The common feature of all the dystrophies is the histological picture of muscle biopsy with the typical signs of muscle fibre variation, muscle necrosis and increased fat and connective tissues.