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Focal and other unusual presentations of facioscapulohumeral muscular dystrophy
Author(s) -
Hassan Anhar,
Jones Lyell K,
Milone Margherita,
Kumar Neeraj
Publication year - 2012
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.23358
Subject(s) - facioscapulohumeral muscular dystrophy , medicine , weakness , muscular dystrophy , facial weakness , atrophy , surgery , pathology
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