Oculopharyngeal muscular dystrophy in Uruguay.

Abstract Within the last 30 years, sixty-five patients exhibiting the clinical symptoms of oculopharyngeal muscular dystrophy (OPMD) were studied at the Neuromuscular Diseases Unit of the Neurological Institute of Montevideo. They are members of five unrelated families which come from the Canary Islands to Uruguay between 1850 and 1900. In the three families examined, the typical inclusions characteristic of OPMD were found in the nuclei of muscle fibers. Treatment for ptosis and dysphagia was discussed. The particular migratory pattern of this group of patients could be of considerable interest in the study of molecular genetics.