Duchenne's muscular dystrophy in six siblings. The case for early diagnosis and neonatal screening.
Six brothers aged from 15 months to 13 years with confirmed Duchenne's muscular dystrophy are described. The serum creatine kinase levels ranged from 2420 IU/I in the youngest boy to 769 IU/I in the eldest. The diagnosis of Duchenne's muscular dystrophy was only made when the eldest boy was 13 years old, despite the fact that his parents had sought medical advice when he was 5. The importance of early diagnosis, detection of carriers and neonatal screening is discussed in relation to the prevention of Duchenne's muscular dystrophy.
D000293:Adolescent; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree
D003402:Creatine Kinase