Oculopharyngeal muscular dystrophy in Norway. Survey of a large Norwegian family.
OBJECTIVE
Oculopharyngeal muscular dystrophy was first described by Taylor in 1915. A substantial number of cases have been reported from North America, the disorder being most frequent in Quebec, Canada.


METHODS
The onset of disease is in middle life, most often presenting with ptosis and a slight degree of ophthalmoplegia, followed some years later by dysphagia and often by proximal limb weakness. The course is slowly progressive, but the dysphagia may become severe and has caused death by starvation in several cases. The disorder is transmitted autosomally dominant in families.


RESULTS
The present report describes a large Norwegian family with 13 affected members of whom we have examined eight. Transmission is autosomally dominant, mode of presentation may be either by ptosis or by dysphagia. In rare cases gait difficulties may be the presenting symptom.


CONCLUSIONS
Electromyographic and muscle biopsy examinations demonstrate a primary myogenic disorder.
Salvesen
R
R
Nordland Sentralsykehus, Bode, Norway.
Brautaset
N J
NJ
D000368:Aged; D000369:Aged, 80 and over; D001763:Blepharoptosis / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003680:Deglutition Disorders / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D009664:Norway; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree