A Family Study of Phosphorylase Deficiency in Muscle

doi:10.1059/0003-4819-62-2-313

A Family Study of Phosphorylase Deficiency in Muscle

RICHARD B. TOBIN, M.D.; and
WILLIAM A. COLEMAN, M.D.

Requests for reprints should be addressed to Richard B. Tobin, M.D., Department of Medicine, University of Rochester School of Medicine,
260 Crittenden Blvd., Rochester, N. Y. 14620
.

Excerpt

The first description of a myopathy due to a defect of muscle glycolysis and characterized by muscular weakness and pain on exertion was made by McArdle in 1951 (1). He described a 30year-old man with a lifelong history of pain, stiffness, and weakness of muscles occurring with exertion. The symptoms lasted minutes to hours and disappeared with rest but became more severe if exercise was continued after the onset of difficulty. McArdle showed that this patient did not produce lactic acid during ischemic exercise of the forearm. He concluded that the patient had a defect of muscle glycolysis and noted

Summario in Interlingua

Esseva studiate tres fraternos (de 18, 15, e 6 annos de etate) con myopathia del typo describite per McArdle. Symptomas de debilitate, dolor muscular, e tensitate somatic se disveloppava in iste patientes post effortio e dispareva in stato de reposo. In un del tres, myoglobinuria esseva demonstrate post grados sever de effortio. Specimens bioptic de musculo revelava in iste caso absentia de activitate de phosphorylase. Duo del fraternos esseva pueras. Intra le limites del fontes examinate, illas es le sol duo femininas con iste morbo unquam studiate. Illas es etiam le patientes le plus juvene con le morbo unquam reportate.

In tres altere fraternos del mesme familia e in ambe parentes, le responsas a tests exercitial pro ischemia esseva normal, e omne iste subjectos esseva asymptomatic. In le 36 cognoscite membros de quatro generationes de iste familia, nulle antecedente de un simile disordine esseva traciate.

Es includite un summario de previe publicationes con descriptiones del aspectos clinic e biochimic del morbo, insimul con certe correlatos physiologic que esseva clarmente evidente in le patientes del presente communication.

Article and Author Information

From the Departments of Medicine and Physiology, University of Rochester School of Medicine and Dentistry, Rochester, N. Y.
This investigation was supported by grant A 1743 from the National Institute of Arthritis and Metabolic Diseases, U. S. Public Health Service, Bethesda, Md., and grant FR-44-03 from the Division of Research Facilities and Resources, National Institutes of Health, U. S. Public Health Service, Bethesda, Md.
- Received August 18, 1964.
- Accepted October 1, 1964.