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Updated: Aug 12, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
Published on: March 4, 2014
Facioscapulohumeral muscular dystrophy
1Department of Neurology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 673, Rochester, NY 14642-8673, USA. rabi_tawil@urmc.rochester.edu
Abstract:
Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited muscular dystrophy with a distinctive clinical presentation. Despite the identification of a causal deletion on chromosome 4q35 over a decade ago, the molecular pathophysiology of FSHD remains unclear. The deleted repeats, though clearly associated with FSHD, do not contain expressed genes. The FSHD-associated deletions must, therefore, influence the expression of one or more genes at a distance from the site of the deletion. Recent studies have suggested potential mechanisms through which such a distant effect could be mediated.
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