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.