Neurogenic involvement in a case of oculopharyngeal muscular dystrophy

We report the case of a 65‐year‐old man with a 15‐year history of oculopharyngeal muscular dystrophy (OPMD) harboring a (GCG)11 mutation of the poly(A)‐binding protein 2 (PABP2) gene. He developed, early in the course of the disease, a severe chronic axonal neuropathy. Although the primary myopathic origin of the disease appears to be established, a small number of cases of OPMD with neuropathic features have been described. This case raises the question of a possible neurogenic component to this disease and the role of the length of the mutation in phenotype severity. © 2002 John Wiley & Sons, Inc. Muscle Nerve 25: 98–101, 2002