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Facioscapulohumeral Muscular Dystrophy

Background

Facioscapulohumeral Muscular Dystrophy: FSH Muscular Dystrophy; FSHD; FSH MD

Facioscapulohumeral Muscular Dystrophy is a muscle wasting condition, caused by a genetic fault present at, or soon after, conception. This fault probably affects the regulation of the level of several of the different proteins in muscles. Particular muscles are typically affected first, and the name reflects the usual distribution of these weakened muscles: 'facio' (facial); 'scapulo' (shoulder blade); 'humeral' (upper arm), as originally described in the 1880s by two doctors from Paris, Landouzy & Dejerine. However, in many people other muscles are also weakened.

FSHD is believed to be the third most common muscular dystrophy (after Duchenne and Myotonic Dystrophies - see entries). It occurs in all racial groups, although may be more common in some populations than others. In the UK, with an estimated frequency of 1 in 20,000, there are probably around three thousand cases in all.

What are the symptoms? View What are the symptoms?

Medical text written October 2001 by Dr P Lunt. Last updated April 2007 by Dr P Lunt, Consultant Clinical Geneticist, St Michael's Hospital, Bristol, UK.

 

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