Abstract

Oculopharyngeal muscular dystrophy (OPMD) and myasthenia gravis are both rare conditions of different pathophysiological nature, so a fortuitous association is unlikely. However, antiacetylcholine receptor antibodies may be found in other genetic myopathies and this is probably not coincidental. Muscle fibre degeneration can induce innate immune responses that may break immune tolerance and allow the generation of autoantibodies to muscle proteins. We report a patient with atypical OPMD who also had acetylcholine receptor antibody-mediated myasthenia gravis. This report raises awareness of the diagnostic and treatment implications of the association of myasthenia gravis with genetic myopathies.