Overview Facioscapulohumeral muscular dystrophy (FSHD)

Facioscapuloperoneal muscular dystrophy (FSHD) is a muscle-wasting condition caused by a genetic mutation, which switches on a gene that shouldn’t normally be switched on.

The name describes the areas where FSHD usually causes weakened muscles:

  • ‘facio’ = facial
  • ‘scapulo’ = shoulder blade
  • ‘humeral’ = upper arm.

Sometimes the lower legs can also be affected. The term ‘peroneal’ refers to this area of the body. Scapulohumeral and scapuloperoneal syndromes are conditions that have similar clinical symptoms to FSHD. Landouzy-Dejerine and facioscapuloperoneal muscular dystrophy are two names for FSHD that are not used often nowadays.

FSHD is one of the most common forms of muscular dystrophy. Experts estimate that between three and five people out of every 100,000 have FSHD. In the UK it is estimated that between 2,000-2,500 people have FSHD.

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