{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T03:39:01Z","timestamp":1771472341092,"version":"3.50.1"},"reference-count":38,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,8,20]],"date-time":"2012-08-20T00:00:00Z","timestamp":1345420800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction:<\/jats:title><jats:p>Facioscapulohumeral dystrophy (FSHD) presents classically with facial and shoulder\u2010girdle weakness. We report focal atypical presentations of FSHD. Our aim was to identify focal\/unusual phenotypes in genetically confirmed FSHD cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Seven cases (4 men) had a mean age of 37 years at onset (range 18\u201363 years) and mean 43 years at diagnosis (range 20\u201374 years). Presenting symptoms were monomelic lower limb (<jats:italic>n<\/jats:italic> = 3) or upper limb (<jats:italic>n<\/jats:italic> = 2) atrophy, or axial weakness (<jats:italic>n<\/jats:italic> = 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 (<jats:italic>n<\/jats:italic> = 1), S1 radicular pain with calf atrophy (<jats:italic>n<\/jats:italic> = 2), and peripheral neuropathy (<jats:italic>n<\/jats:italic> = 1). Almost all patients had myopathic EMG changes. DNA analysis showed a <jats:italic>D4Z4<\/jats:italic> EcoRI fragment size ranging from 20 to 37 kilobases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>FSHD may present with focal weakness, dyspnea and myopathic EMG changes. These findings should raise the possibility of FSHD. 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