Focal Presentations of Facioscapulohumeral Dystrophy (P04.082)

Abstract

Objective: To identify additional focal presentations of FSHD. Background Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant myopathy, classically presenting with facial and shoulder girdle weakness. Recently, monomelic lower limb presentations of genetically confirmed FSHD have been reported. Design/Methods: A retrospective review of our academic center medical record database of all FSHD cases seen from 1996 to 2011. Of 139 cases identified, 8 had DNA confirmation with a focal presentation. Demographic and clinical data was abstracted. Results: There were 8 cases (4 male) with mean age at onset 39 years (range 18-63) and age at diagnosis 45 years (range 20-74). Presenting symptoms were monomelic lower limb atrophy (3); unilateral shoulder atrophy (3); and axial weakness (2). Examination showed isolated focal weakness in five. CK was normal or mildly elevated. All had a single family member with “weakness”. Co-existent unusual symptoms included dyspnea (2), S1 radicular pain with calf atrophy (2), peripheral neuropathy (1) and post-traumatic onset (1). EMG showed myopathic changes in all, apart from one case with severe denervation later followed by myopathic changes. DNA analysis showed D4Z4 EcoRI fragment size ranging from 20 to 37 kilobases. Conclusions: The clinical phenotype of FSHD should be expanded to include focal atrophy with myopathic EMG findings; axial weakness; or dyspnea at presentation. These cases are challenging due to lack of typical FSHD signs and coexistent symptoms suggestive of an alternative diagnosis. Disclosure: Dr. Hassan has nothing to disclose. Dr. Jones has nothing to disclose. Dr. Milone has nothing to disclose. Dr. Kumar has nothing to disclose.