Duchenne muscular dystrophy: systematic neonatal screening and earlier detection of carriers

Abstract

Systematic neonatal screening programme for DMD has been set up since June 1975. Constant and specific SCK increase in DMD newborn can be found on whole dried blood between the 5th and 8th day after birth. The amount of false positives is small : 1,6%. At the first control, DMD diagnosis is very probable and is made certain by EMG and muscle microscopic observations. For a period of 3 years and 6 months, we have achieved 138 579 screening tests, and 12 DMD were found, among 71 091 boys (1/5 929 male births). Genealogical data from 11 families out of the 12 lead to identify 93 women relatives as possible carriers; 23 of them are menstruating women who benefit by recognition and receive genetic information several years before the DMD clinical diagnosis in the first family's proband could have been done. Systematic neonatal screening programme for DMD seems to be a means to reduce the incidence of DMD to the theoretical mutation cases.