Hereditary Absence of Muscle Phosphorylase (McArdle's Syndrome)

Abstract
IN 1951 McArdle1 described a patient with a hitherto unrecognized muscle disorder in which marked weakness, cramping pain and prolonged stiffness of muscles were produced by moderate degrees of exercise. These manifestations had been present since childhood, but by limiting his muscular exertion, he had learned to live with his disability. The musculoskeletal and nervous systems were physically normal, but it was noted that after exercise the usual rise in venous lactate concentration2 failed to occur. This observation suggested the possibility that in this syndrome the primary defect involved the anaerobic breakdown of muscle glycogen to lactate, resulting in impaired . . .

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