Facioscapulo-humeral dystrophy

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Facioscapulo-humeral dystrophy

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Synonyms and related keywords: Facio-Scapulo-Humeral Dystrophy, FSH, FMD, FSHD, Muscular Dystrophy, Facioscapulohumeral, Muscular Dystrophy, Landouzy Dejerine

Facioscapulohumeral muscular dystrophy (FSHD), also known as Landouzy-Dejerine muscular dystrophy, is a neuromuscular disorder.

  • Facial weakness is the initial manifestation with inability to smile, whistle, etc.
  • Shoulder muscles are weak with scapular “winging” during arm abduction.
  • Biceps / triceps are involved with sparing of the deltoids.
  • 20% progress to involve the pelvic girdle.
  • Labile hypertension, ocular involvement (Coat’s disease) and deafness can occur.

Facioscapulohumeral muscular dystrophy is usually inherited as an autosomal dominant trait. However, in up to approximately 30 percent of affected individuals, there is no apparent family history of the disorder.


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