Focal and other unusual presentations of facioscapulohumeral muscular dystrophy

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. Muscle Nerve 46: 421–425, 2012