The availability of DNA markers closely linked to the Duchenne muscular dystrophy (DMD) gene locus has facilitated carrier detection and prenatal diagnosis of this condition. More than 50 affected South African kindreds are being studied using DNA probes within and flanking the DMD region of the X chromosome in order to ascertain the nature of the molecular defects in affected males and to investigate the feasibility of genetic management by means of these techniques. The results of this study and the implications of this new molecular technology for DMD patients in South Africa are reviewed and discussed.