Ophthalmoplegia as the presenting muscle-related manifestation of myotonic dystrophy

Abstract

Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by expanded CTG repeats within the 3' untranslated region of the dystrophia myotonia protein kinase (DMPK) gene on chromosome 19. Diplopia is rare in this disease and has only been reported in patients with diffuse neuromuscular disorders. We report here on the case of a 58-year-old woman in whom ophthalmoplegia was the first neuromuscular manifestation of DM1 and led to the diagnosis. Among the multisystem abnormalities associated with DM1, muscle-related symptoms are prominent, and usually involve the facial and neck muscles early on in the disease. This case provides additional evidence of oculomotor muscle involvement in DM1. DM1 should, therefore, be considered during the diagnostic workup of any unexplained ophthalmoplegia of muscle origin, especially if there has been a previous history of cataract, even in the absence of typical muscle-related features.