Oculopharyngeal and distal myopathy: a case study from Papua New Guinea.
Distal limb myopathy with onset at 30 years, followed by the development of progressive ptosis, external ophthalmoplegia, and pharyngeal myopathy was observed in a 37-year-old Melanesian man from the Gulf Province of Papua New Guinea. Ptosis and external ophthalmoplegia without apparent distal muscle involvement or dysphagia with onset at 35 and 25 years of age, respectively, were noted in the patient's 44- and 27-year-old sisters. Autosomal recessive inheritance appears to be likely in this family. This myopathic syndrome has not previously been reported in Melanesians.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001763:Blepharoptosis / Q000235:genetics*; D003680:Deglutition Disorders / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009886:Ophthalmoplegia / Q000235:genetics*; D010219:Papua New Guinea; D010375:Pedigree; D013577:Syndrome