Facioscapulohumeral Muscular Dystrophy: Unraveling the Mysteries of a Complex Epigenetic Disease

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited neuromuscular disease, with an epigenetic basis linked to contractions or hypomethylation of the chromosome 4q subtelomere. Efforts to understand chromatin alterations in this region have yielded several interesting models of the disorder. This chapter summarizes the genetic and epigenetic etiology of FSHD and the search for candidate genes, with an emphasis on recent discoveries. It also seeks to highlight current therapeutic strategies and future directions for the field. In particular, there is a need for large, well-controlled studies to identify consistent biomarkers of early disease pathology.