Type Dystrophy in One Nonidentical Twin

Condition (years) Sex Blood group aldolase SCOT SGPT 

It was soon noted, however, that serum creatine kinase as well as aldolase may be elevated in carriers (S12, S33), that here creatine kinase is far more sensitive, and that by its assay not only might the carrier state be confirmed in almost every female known to harbor the gene (Al, H8), but the expected proportion of mutant cases could be found by a family absence of both clinical and biochemical evidence of heredity (R12). These results have been confirmed for creatine kinase in a very large series of relatives of Duchenne-type dystrophic patients (R4), although 

Methods have recently been used for measuring arm-to-arm (total) circulation time separately (D6) or simultaneously with arm-tongue (central) circulation time (D5), and abnormal reductions in the difier-ence (peripheral circulation time) predictably found in dystrophic patients (D3) have been found also in female carriers of Duchenne-type dystrophy (D5a, S18) and may be due to increased metabolism of the diseased muscle. By combining these techniques with simultaneous serum aldolase and creatine kinase assay, successful detection of 85-90% of carriers is said to be possible (D7, D7a, D8). Further, electromyographic studies in known carriers have now disclosed the presence of polyphasic responses intermediate in frequency between those found in normal and in dystrophic individuals, thus providing an additional means of discrimination (VI). 

Richterich, R., Colombo, J. P., and Rossi, E., Progrossive muscular dystrophy. II. Biochemical identification of the carrier state in the recessive sex-linked juvenile (Duchenne) type by serum creatine-phosphokinase determinations. Enzymol. Biol. Clin. 1, 61 (1961-1962). 

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