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Neurol Clin. 2014 Aug;32(3):721-8, ix. doi: 10.1016/j.ncl.2014.04.003. Epub 2014 May 15.

Facioscapulohumeral muscular dystrophy.

Author information

  • 1Department of Neurology, University of Rochester Medical Center, 265 Crittenden Boulevard, CU 420669, Rochester, NY 14642-0669, USA. Electronic address: Jeffrey_Statland@URMC.Rochester.edu.
  • 2Department of Neurology, University of Rochester Medical Center, 265 Crittenden Boulevard, CU 420669, Rochester, NY 14642-0669, USA.

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.

Copyright © 2014 Elsevier Inc. All rights reserved.

KEYWORDS:

D4Z4 deletion; DUX4; Facioscapulohumeral muscular dystrophy; Muscular dystrophy; SMCHD1 mutation

PMID:
25037087
[PubMed - in process]
PMCID:
PMC4239655
[Available on 2015/8/1]
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