Autosomal dominant Kearns-Sayre syndrome.
External ophthalmoplegia, retinal pigmentary degeneration, and heart block constitute the Kearns-Sayre syndrome. Skeletal muscle weakness, deafness, ataxia and endocrine disturbances also may occur. We examined 15 members in two generations of a family with autosomal dominant Kearns-Sayre syndrome. Seven had external ophthalmoplegia, six had electrocardiographic abnormalities, six had limb weakness nad six patients were normal. A deltoid muscle biopsy specimen from one patient contained typical "ragged-red fibers," abnormal lipid accumulation, and mitochondria increased in size and number, containing inclusions. The study demonstrated: (1) the marked variability in genetic expression; (2) the need to examine family members to discover asymptomatic patients and to establish an otherwise unrecognized hereditary pattern; and (3) the absence of specific and consistent biochemical abnormalities.
D000293:Adolescent; D000328:Adult; D001763:Blepharoptosis / Q000150:complications; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006327:Heart Block / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000150:complications / Q000473:pathology; D009886:Ophthalmoplegia / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D012162:Retinal Degeneration / Q000150:complications*; D013577:Syndrome