The Long And Short Of Facioscapulohumeral Muscular Dystrophy

This chapter integrates research over the last few decades from various groups across the globe in order to provide a comprehensive account of different aspects of the debilitating muscle disorder Facioscapulohumeral muscular dystrophy (FSHD). FSHD is the third most common inherited form of muscular dystrophy, it is the first example of a macrosatellite-linked disease, displaying a complex pathogenesis due to interplay between genetic and epigenetic components. The chapter starts with the history of the disease and its clinical features. Various genetic and epigenetic determinants of the disease are subsequently detailed, aimed at understanding how they might be contributing to the phenotype. Finally, we discuss treatment of the disease and translational research for developing therapeutic approaches, along with associated concerns.