[Newborn screening for Duchenne muscular dystrophy (author's transl)].
The technique of screening for Duchenne muscular dystrophy (DMD) is a fairly simple procedure. However, the DMD is an untreatable disease. The advantage of screening is only to prevent other cases of DMD by genetic counselling of families to avoid a second, affected child. the estimated effectiveness of the screening is the prevention of 8,3-15% of the hemizygotes. The false negative cases in screening for carrier detection is 30%. (cut-off-level 120 IU/1). Therefore: No screening for carrier detection, voluntary screening in all newborn males and screening in families at risk and in all boys with potential early signs.
D003365:Costs and Cost Analysis; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D012737:Sex Factors; D006113:United Kingdom
D003402:Creatine Kinase
Neugeborenen-Screening nach Duchennescher Muskeldystrophie.