Emery-Dreifuss muscular dystrophy.
Emery-Dreifuss dystrophy, an X-linked disorder, is a recently recognized distinct neuromuscular disease with special pediatric implications. We describe three affected boys with the typical early contractures and weakness. Two patients are from a large kindred that includes older affected males and carrier females, both of whom had lethal cardiac disease by mid-adulthood. The atrial arrhythmias are treatable by pacemaker if the diagnosis is established beforehand.
D000293:Adolescent; D000328:Adult; D001145:Arrhythmias, Cardiac / Q000209:etiology; D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics / Q000473:pathology*; D020389:Muscular Dystrophy, Emery-Dreifuss; D012729:Sex Chromosome Aberrations / Q000150:complications / Q000473:pathology; D014960:X Chromosome