A 52-year-old man presented with progressive upper and lower limb weakness developing over 5 years. He had no relevant family history. On examination, he had proximal upper limb weakness and predominantly distal lower limb weakness with foot drop. There were winged scapulae, wasted biceps brachii with relative sparing of deltoid muscles and a positive Beevor’s sign (figures 1–3 and online supplemental video 1). His serum creatine kinase was 281 U/L (29–168), and serum alkaline phosphatase was 565 U/L (40–150). Echocardiogram and vital capacity (standing) were normal. A CT scan of the thorax and abdomen showed incidental diffuse sclerotic-lytic bone lesions. Genetic testing showed 13 repeats in the D4Z4 allele and 58% of DNA methylation, making facioscapulohumeral muscular dystrophy (FSHD) unlikely. DNA analysis subsequently identified a heterozygous c.266G>A (p.Arg89Gln) mutation in the valosin-containing protein (VCP) gene.

Keywords: MYOPATHY; NEUROMUSCULAR.