STUDIES OF ENZYMES IN SERUM IN MUSCULAR DYSTROPHY

[摘要] Progressive muscular dystrophy is one of the relatively few chronic diseases in which an increase of various enzymes in serum is of diagnostic value. In the presence of muscular weakness high levels indicate a primary myopathic process. It has previously been shown that elevated values for enzymes in serum are most pronounced in childhood dystrophy, are highest early in the disease, and taper toward normal several years later.This study involves a clinical and biochemical analysis of several families in which dystrophy is known to exist. An elevation of the enzymes studied (two transaminases, aldolase, two dehydrogenases) was found in several young boys who were at the time clinically asymptomatic. In one family the youngest of these children was 4½ months of age. Three of his brothers developed clinical dystrophy at about 3 years of age. In another family clinical follow-up for 3 years after the finding of elevated levels of enzymes in serum has shown the development of early muscular weakness in two male cousins of a known dystrophic person. Muscle biopsy in the preclinical stage has shown dystrophic changes in each of five cases.The diagnostic and prognostic significance of enzyme levels in serum in families of dystrophic persons is impressive. It appears that in some forms of dystrophy the time of onset of the disease is very early in life, or even in the prenatal period. The enzyme studies have provided the first objective evidence that this may be the case.

[学科分类] 儿科学