Oculopharyngodistal myopathy.
An autosomal dominant, heredofamilial myopathy consisted of slowly progressive ptosis and extraocular palsy, and weakness of the masseter, facial, and bulbar muscles, as well as distal involvement of the limbs starting around 40 years of age or later. No other neurological symptoms or disturbances of other organs or tissues were observed. In one case, autopsy disclosed no remarkable change in the central and peripheral nervous system, and muscle biopsy specimens from all patients showed myopathic patterns without any specific change. A descriptive term, "oculopharyngodistal myopathy," was proposed to separate the present illness from other ocular myopathies.
D000368:Aged; D001763:Blepharoptosis / Q000235:genetics; D005158:Facial Paralysis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009886:Ophthalmoplegia / Q000235:genetics*; D010375:Pedigree