Use of creatine kinase for detecting severe X-linked muscular dystrophy carriers

Abstract

Women thought to be at risk of being carriers of Duchenne muscular dystrophy were given "odds" against their having an affected child. These were calcuated from a combination of the genetic risk from the family history and an estimation of the biochemical risk from measuring the serum creatine kinase concentration. The women were told the actual risk estimate and it was put into perspective for them as a high, medium, or low risk. Of 25 women at high risk six have had children, all girls; the two in the medium-risk group have had no children; and the 46 women at low risk have had 19 boys and 25 girls. None of the boys has the disease. With detailed counselling most potential carriers of this disease reach decisions in child bearing that are in line with their degree of risk.