Proximal weakness and exercise-induced pain as first symptoms of oculopharyngeal muscular dystrophie

A 54-year-old female patient presented with exercise-induced proximal muscle pain and weakness of the lower limbs. One year after the onset of these symptoms she developed bilateral ptosis and dysphagia. Molecular genetic analysis of the poly(A) binding protein 2 gene (PABP2) confirmed the presumptive diagnosis of oculopharyngeal muscular dystrophy (OPMD). Exercise-induced proximal muscle pain and weakness are rarely initial symptoms of OPMD. We discuss therapeutic options and present an overview of the relevant literature.