Muscular dystrophies and other genetic myopathies

Abstract

With advances in the genetics of muscle disease, the term, muscular dystrophy, has expanded to include mutations in an increasing large list of genes. This review discusses the genetics, pathophysiology, and potential treatments of the most common forms of muscular dystrophy: Duchenne muscular dystrophy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. Other forms of muscular dystrophy and other genetic muscle disorders are also discussed to provide an overview of this complex clinical problem.

Keywords: Congenital; FSHD; Limb-Girdle; Metabolic; Muscular dystrophy; Myopathy; Myotonic dystrophy.