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Facioscapulohumeral Muscular Dystrophy

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Topic updated on 06/24/12 11:39pm
Introduction
  • Disorder of progressive neurologic dysfunction which causes progressive muscle weakness
    • commonly seen as a slow progression of muscle weakness involving muscles of
      • facial expression
      • proximal upper extremity
  • Epidemiology
    • autosomal dominant
    • men affected more than women
Presentation
  • Symptoms
    • slow muscular decline over time
  • Physical Exam
    • scapular winging with limited arm abduction
      • causing prominent shoulder blades
    • unable to whistle
    • eyelid droopiness
Labs
  • Normal CPK
Treatment
  • Nonoperative
    • PT/OT, speech therapy
      • to maintain strength and range of motion of affected muscles
      • although their arms become gradually weaker from adolescence on, patients can usually work into later life
  • Operative
    • scapulothoracic fusion
      • to treat symptomatic scapular winging

 

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