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Facioscapulohumeral Muscular Dystrophy

What are the causes?

Normally, at a particular site on the gene map (region '4q35' at one end of chromosome 4), each of us has many copies of a particular sequence of genetic instruction (DNA). In most cases, FSHD is caused when the number of copies is reduced below a certain level on one of the pair of chromosome 4's. This seems to affect the way that DNA in that region is packed into the chromosome, and may well be triggering the production or assembly of some proteins which would not normally be made in muscle. The effect is to cause damage to the muscle cells.

View What are the symptoms? What are the symptoms?  |  How is it treated? View How is it treated?

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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