Abstract

Objective: Characterizing adult patients presenting paraspinal atrophy and weakness. Patients/methods: Several clinical subtypes of facioscapulohumeral muscular dystrophy (FSHD) have been characterized. We present four cases (two men, two women) with genetically confirmed FSHD with a distinct phenotype solely affecting the paraspinal muscles. Three of these patients complained of lower back pain. On physical examination there was a marked atrophy of the paraspinal muscles, one patient showed slight weakness of hip abduction, another patient revealed slight weakness of the dorsal extensors of the foot.

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