Oculopharyngeal muscular dystrophy as a cause of progression of weakness in antibody positive myasthenia gravis

Abstract

Many neuromuscular conditions cause bulbar and limb weakness, and when several conditions coexist they present additional diagnostic challenges. Here we describe a case of a 45-year-old woman with antibody positive myasthenia gravis since age 16, who then develops treatment-resistant weakness due to genetically proven oculopharyngeal muscular dystrophy. We conclude that the development of treatment-resistant weakness in myasthenia gravis should spur further work up for other neuromuscular disorders including oculopharyngeal muscular dystrophy.