Facioscapulohumeral dystrophy.
Facioscapulohumeral dystrophy (FSHD) is the third most common inherited muscular dystrophy after Duchenne dystrophy and myotonic dystrophy. Over the last decade, major advances have occurred in the understanding of the genetics of this disorder. Despite these advances, the exact mechanisms that lead to atrophy and weakness secondary to the genetic defect are still not understood. The purposes of this article are to increase awareness of FSHD among clinicians; to provide an update regarding the genetics, clinical features, natural history, and current management of FSHD; and to discuss opportunities for research.
Pandya
Shree
S
School of Medicine and Dentistry, University of Rochester, Rochester, NY 14627, USA. shree_pandya@urmc.rochester.edu
King
Wendy M
WM
Tawil
Rabi
R
D006801:Humans; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis / Q000235:genetics / Q000628:therapy