PABPN1 and neuromuscular disease: Oculopharyngeal muscular dystrophy (OPMD) is a rare, autosomal dominant, progressive neuromuscular disease, with an onset usually around the fifth decade.1 The early features are ptosis combined with dysphagia, with limb weakness becoming a progressive feature as the disease progresses.2,3 OPMD is the result of a trinucleotide repeat expansion in the PABPN1 gene; an alanine expansion of the GCN[10] expansion is pathogenic.4 In addition, the size of PABPN1 genotype seems to influence the disease severity and progression.