Facio-scapulo-humeral muscular dystrophy (FSHD) presenting as vacuolar myopathy

We report on a 46-year-old patient initially presenting at age 38 with marked atrophy in the distal part of the proximal leg muscles. At age 46, mild weakness of proximal and distal muscles was found, facial, scapular, pectoral or neck muscles were not affected. CK was elevated up to 1500U/l, there was no cardiac or pulmonary involvement. EMG showed a mixed myopathic/neurogenic pattern in proximal leg muscles. Muscle biopsy revealed a necrotic myopathy with numerous rimmed vacuoles. Quadriceps sparing hereditary inclusion body myopathy due to mutations in GNE gene, dystrophinopathy, calpainopathy, dysferlinopath…