[Neonatal screening for duchenne myopathy by serum elevation of creatine phosphokinase activity. 5 years experience].
The systematic seek of an increased activity of the SCK among all newborns has permitted the detection of the Duchenne-type muscular dystrophy in the "Rhone-alpes" area. By the survey of 40,000 births during 5 years and the detection of 16 Duchenne-type muscular dystrophies the authors estimate the incidence of DMD at 1/6500 living new born boys. The number of false positives (1,5 p. 1000) is little and, up to now, no false negative has been recorded. A few boys and girls keep and increased activity of the SCK, and 3 boys hae a Becker-type muscular dystrophy.
D004796:Clinical Enzyme Tests; D003402:Creatine Kinase / Q000097:blood*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D008297:Male; D008403:Mass Screening; D009136:Muscular Dystrophies / Q000175:diagnosis*; D012016:Reference Values
D003402:Creatine Kinase
Dépistage néonatal de la myopathie de Duchenne par l'élévation de l'activité sérique de la créatine-phosphokinase. Bilan de 5 années.