MCARDLES-DISEASE - A CASE-REPORT

McArdle's disease is a hereditary, metabolic myopathy characterized by weakness and muscle cramps after exercise, appearing mostly in the se cond or third decade of life. Due to myophosphorylase deficiency in sk eletal muscle, glycogen cannot he used and deposited in the sarcolemma l spaces, leading to lack of endurance to sustained work. The ischemic exercise test is a screening procedure for muscle energy disorders, a nd the diagnosis is confirmed by reduced enzyme activity in muscle bio psy. In this report, a family with one child having enzyme assay-prove n McArdle's disease and two other children demonstrating a positive is chemic exercise test is presented.