title: Facioscapulohumeral muscular dystrophy.
abstract: Facioscapulohumeral muscular dystrophy (FSHD) is a common type of adult muscular dystrophy and is divided into types 1 and 2 based on genetic mutation. Clinically, both FSHD types often show asymmetric and progressive muscle weakness affecting initially the face, shoulder, and arms followed by the distal then proximal lower extremities. Approximately 95% of patients, termed FSHD1, have a deletion of a key number of repetitive elements on chromosome 4q35. The remaining 5%, termed FSHD2, have no deletion on chromosome 4q35. Nevertheless, both types share a common downstream mechanism, making it possible for future disease-directed therapies to be effective for both FSHD types.
authors.affiliation: Department of Neurology, University of Rochester Medical Center, 265 Crittenden Boulevard, CU 420669, Rochester, NY 14642-0669, USA. Electronic address: Jeffrey_Statland@URMC.Rochester.edu.
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Statland
authors.affiliation: Department of Neurology, University of Rochester Medical Center, 265 Crittenden Boulevard, CU 420669, Rochester, NY 14642-0669, USA.
authors.forename: Rabi
authors.initials: R
authors.lastname: Tawil
mesh_terms: D017353:Gene Deletion; D006801:Humans; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000235:genetics*
keywords: D4Z4 deletion; DUX4; Facioscapulohumeral muscular dystrophy; Muscular dystrophy; SMCHD1 mutation