[Detection of young female carriers of Duchenne muscular dystrophy].

Abstract

36 females aged through 1 to 16 years were studied. They were sisters or close kin, on the maternal side, of patients with Duchenne's Muscular Dystrophy (DMD). 23 healthy controls were also studied so as to evaluate the usefulness of determining serum creatine phosphokinase (CPK) as means for detecting young carriers of DMD. 18 of 36 girls (50%) who were the daughters of the affected families, showed CPK seric values more than twice the standard deviation of the mean of the witness group (21 +/- 7.9 U/L). The Bayesian analysis performed on the problem group showed a good correspondence. These findings imply a high range of detection in possible carriers under 16 years of age. We believe that the absence of symptomatology in some of these girls does not eliminate the possibility of being a carrier.