title: Facioscapulohumeral Dystrophy.
abstract: Facioscapulohumeral muscular dystrophy (FSHD) is a clinically recognizable and relatively common muscular dystrophy. It is inherited mostly as an autosomal dominant disease or in a minority of cases, in a digenic pattern. The disease manifestation is variable and most likely dependent on genetic and epigenetic factors. We review the history, epidemiology, clinical presentation, and genetics of the disease, present the recently elucidated molecular pathogenesis, discuss the pathology and the possible consequence of the inflammation seen in the muscle biopsies, and consider future treatments.
authors.affiliation: Department of Neurology, University of Washington, 1959 NE Pacific St, Campus Box 356169, Seattle, WA, 98195, USA. leowang@uw.edu.
authors.forename: Leo H
authors.initials: LH
authors.lastname: Wang
authors.affiliation: Department of Neurology, University of Rochester, 601 Elmwood Ave, Box 673, Rochester, NY, 14642, USA.
authors.forename: Rabi
authors.initials: R
authors.lastname: Tawil
mesh_terms: D006801:Humans; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy
keywords: DUX4; Facioscapulohumeral dystrophy; Genetics; Muscular dystrophy; SCHMD1