HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Orrell, R. W. Search for Related Content PubMed Articles by Orrell, R. W.

Facioscapulohumeral Dystrophy

Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, Rowland Hill Street, London NW3 2PF; E-mail: r.orrell{at}rfc.ucl.ac.uk

EXTRACT

Facioscapulohumeral dystrophy (FSHD) is the third most common muscular dystrophy (after myotonic and Becker/Duchenne muscular dystrophies). It is present world-wide. Males and females are equally affected. Presentation occurs at any age, but typically features are present by the age of 20, although they may be unnoticed or dismissed by the patient. Progression is relatively slow, and lifespan typically not affected. About one-fifth of patients may require a wheelchair at some stage (Orrell & Griggs 2003).

FSHD presents with weakness predominantly in muscles of the face, shoulder girdle and upper arms (Figs 1 and 2). Weakness may also affect the peroneal muscles in the legs, and more generally. The muscle weakness and wasting may be selective and asymmetrical. Diagnosis is usually made on the clinical presentation. However, weakness of eye and mouth closure may be mild, and missed, and the diagnosis not made or considered.

It is now possible to make ...

[PDF of this article]