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Facioscapulohumeral muscular dystrophy

Jeffrey Statland¹, Rabi Tawil¹

¹Department of Neurology, University of Rochester Medical Center, 265 Crittenden Boulevard, CU 420669, Rochester, NY 14642-0669, USA.

Neurologic Clinics

|July 20, 2014

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.

Keywords:

D4Z4 deletion DUX4 Facioscapulohumeral muscular dystrophy Muscular dystrophy SMCHD1 mutation

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