Focal and other unusual presentations of facioscapulohumeral muscular dystrophy

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11 Scopus citations


Introduction: Facioscapulohumeral dystrophy (FSHD) presents classically with facial and shoulder-girdle weakness. We report focal atypical presentations of FSHD. Our aim was to identify focal/unusual phenotypes in genetically confirmed FSHD cases. Methods:: We undertook a retrospective review of an academic center database of the period from 1996 to 2011. Of 139 FSHD cases, 7 had atypical genetically confirmed disease. Clinical data were abstracted. Results: Seven cases (4 men) had a mean age of 37 years at onset (range 18-63 years) and mean 43 years at diagnosis (range 20-74 years). Presenting symptoms were monomelic lower limb (n = 3) or upper limb (n = 2) atrophy, or axial weakness (n = 2). Five patients had focal weakness on examination. CK was normal to borderline high. Two patients had a relative with FSHD. Coexistent unusual features included dyspnea (n = 1), S1 radicular pain with calf atrophy (n = 2), and peripheral neuropathy (n = 1). Almost all patients had myopathic EMG changes. DNA analysis showed a D4Z4 EcoRI fragment size ranging from 20 to 37 kilobases. Conclusions: FSHD may present with focal weakness, dyspnea and myopathic EMG changes. These findings should raise the possibility of FSHD.

Original languageEnglish (US)
Pages (from-to)421-425
Number of pages5
JournalMuscle and Nerve
Issue number3
StatePublished - Sep 2012


  • 4q35
  • Dyspnea
  • Facioscapulohumeral dystrophy
  • Focal
  • Monomelic

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)


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