The carrier state in muscular dystrophy of the Duchenne type

Abstract

Serum creatine phosphokinase (CPK) levels were studied under basal conditions in 75 female relatives of patients with muscular dystrophy of Duchenne type to determine the reliability of this procedure in detecting the carrier state. The subjects were 1st classified by their genetic history into 3 groups: definite, probable, and possible carriers. The elevations in CPK levels in these 3 groups were 79%, 50%, and 45%, respectively, indicating the possibility of detecting many of the carriers of this hereditary disease. However, application of the procedure to genetic counseling requires recognition of its limitations. The observations, also, suggest that in 24% of the families, fresh mutations could have accounted for the disease.