Facioscapulohumeral muscular dystrophy (FSHD): clinical features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Facioscapulohumeral muscular dystrophy (FSHD): clinical features. Category A: both facial and scapular girdle muscle weakness.

Clinical phentoypes

  • Category A: both facial and scapular girdle muscle weakness
  • Category B: either facial or scapular weakness
  • Category C: asymptomatic
  • Category D: atypical phenotypes

Features of facial weakness

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Features of limb weakness

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Coat’s disease

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Respiratory impairment: risk factors

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Cardiac features

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Other features

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Differential diagnosis

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References

  1. Osbourne RJ, Welle S, Venance SL, Thornton CA, Tawil R. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 2007; 68:569-577.
  2. Ropper AH, Brown RH. Principles of Neurology. Eighth edition. McGraw Hill New York 2005 p1218.
  3. Amato AA, Russell JA. Neuromuscular Disorders. McGraw Hill New York 2008 p553.
  4. Ricci G, Ruggiero L, Vercelli L, et al. A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. J Neurol 2016; 263:1204-1214.
  5. Tawil R, Kissel JT, Heatwole C, et al; Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Evidence-based guideline summary: evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy. Neurology 2015; 85:357-364.
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