Facioscapulohumeral muscular dystrophy (FSHD): clinical features

Evidence-based neurology checklist on facioscapulohumeral muscular dystrophy (fshd): clinical features: 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…

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

Features of limb weakness

Coat’s disease

Respiratory impairment: risk factors

Cardiac features

Other features

Differential diagnosis

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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