Oculopharyngeal muscular dystrophy in Uruguay.
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 came 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.
Medici
M
M
Neuromuscular Diseases Unit, Instituto de Neurologia Hospital de Clinicas, Montevideo, Uruguay.
Pizzarossa
C
C
Skuk
D
D
Yorio
D
D
Emmanuelli
G
G
Mesa
R
R
D000328:Adult; D017668:Age of Onset; D000368:Aged; D001706:Biopsy; D001763:Blepharoptosis / Q000209:etiology; D015331:Cohort Studies; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D008297:Male; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000401:mortality / Q000473:pathology; D009801:Oculomotor Muscles; D010609:Pharyngeal Muscles; D014583:Uruguay