Improved detection of Duchenne muscular dystrophy heterozygotes using discriminant analysis of creatine kinase levels

Abstract

We have assessed the sensitivity and specificity of tests to detect carriers of Duchenne muscular dystrophy by use of three serum enzymes (creatine kinase, pyruvate kinase, and aldolase) and discriminant analysis in 21 obligate heterozygotes and 28 normal controls. We found no significant age effects on enzyme levels. Each enzyme level considered separately was significantly higher in heterozygotes. Use of logs improved discrimination, and log CK was sufficient by itself as a discriminant (that is, addition of other enzymes did not significantly improve discrimination). We present procedures to generate posteriori probabilities for genetic counselling that incorporate prior probabilities and enzyme levels. Our results show both improved sensitivity (90%) and specificity (86%).

Echinogenic action of L‐α‐lysophosphatidylcholine in Duchenne muscular dystrophy: A study on carrier detection

“…The use of serum enzyme levels for DMD carrier detection lacks sensitivity [Percy et al, 1982a,b;Muir et al, 1983;Gruemer and Prior, 19871. Several investigators have reported that a high percentage of red cells from individuals with DMD are deformed with many surface projections and assume the "echinocyte" configuration [Matheson and Howland 1974;Grassi et al, 19781.…”