[Screening for elevated creatine kinase activities for the early diagnosis of Duchenne muscular dystrophy].
A screening test for the determination of creatine kinase in a dry spot of the whole blood is used for the early identification of boys with Duchenne muscular dystrophy and girls with carrier properties of this hereditary disease. In the absence of an effective medical therapy, such screening leads to genetic counselling of the affected families with the purpose of avoiding the birth of further cases of Duchenne muscular dystrophy in the same families. The first results of a voluntary screening program in Germany are discussed.
D003402:Creatine Kinase / Q000378:metabolism*; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D005860:Germany, West; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D011379:Prognosis
D003402:Creatine Kinase
Screening auf erhöhte Kreatinkinase-Aktivitäten zur Früherkennung der Duchenne-Muskeldystrophie.