Late onset oculopharyngeal muscular dystrophy with prominent neurogenic features and short GCG trinucleotide expansion.

摘要

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant myopathy caused by an abnormal (GCG) 8-13-trinucleotide-repeat expansion in the poly-adenylate-binding protein nuclear 1 (PABN1; PABP2) gene located on chromosome 14q11. Clinical and laboratory evidence of peripheral nervous system (PNS) involvement has been reported in a few genetically confirmed OPMD patients who carried long (11-13) CGC repeats,1 but these findings have recently been questioned.2 Herein we report a patient with genetically proven OPMD who presented in his eighties with rapidly progressive dysphagia and clinical and laboratory features of neuropathic rather than myopathic involvement.