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Muscular dystrophy is a heredofamilial disease characterized by primary degeneration of certain groups of voluntary muscles. Although several forms of the disease are recognized clinically the basic metabolic defect is probably the same in all cases, regardless of the outward manifestations. In many instances it appears that the genetic defect is sex-linked, while in others it is not. All of the members of a given family may not show the obvious signs of disease, but if a careful study is made the non-affected members often show more or less subtle and asymptomatic defects which may be characterized as abortive forms of the disease. In experimental animals a type of dystrophy may he produced by diets which are deficient in vitamin E, and the resulting dystrophy is accompanied by a markedly increased oxygen consumption of even the resting muscle. At the same time the urine of dystrophic animals, like the urine of dystrophic humans, contains large amounts of creatine and very little creatinine. Since creatine phosphate is intimately involved in the metabolism of skeletal muscle, loss of this vital intermediate is completely in line with the obvious muscular wasting. Attempts at alleviation of human disease by vitamin E therapy have been disappointing. While vitamin E, alone or with inositol (1), corrects the creatinuria, the other degenerative changes are not altered from their progressive course. For the past ten years we have been engaged in cataloging the electrophoretic patterns of serum and plasma proteins in a variety of diseases, and our interest in muscular dystrophy was recently stimulated by receipt of several samples of serum and plasma as part of this general project. It was observed that the few samples then available were distinctly lactescent or chylous in appearance. Investigation of successive samples from a larger number of individuals indicated that this was a general observation. In some instances post-absorbtive samples were sufficiently opaque to completely obscure large newsprint held directly behind the sample tube (Figure 1). The striking appearance of the samples lead us to investigate the content of some lipoid components. Our findings in this connection constitute the basis of the present report.

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Proceedings of the Iowa Academy of Science





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©1956 Iowa Academy of Science, Inc.



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