We report the exercise capacity of an 8-year-old boy with clinical, histological, biochemical, and genetic evidence of McArdle disease. The patient presented with severe myalgia, proteinuria, hematuria, pyrexia, and elevated creatine kinase after swimming. After pre-exercise ingestion of sucrose, he
A 9-year-old boy with McArdle disease, who demonstrated remarkable recovery of objectively measured exercise tolerance after 1 year of follow-up, during which he pursued age-appropriate physical activities. The patient presented 1 year previously with severe myalgia, muscle weakness, proteinuria,