title: One-year follow-up in a child with McArdle disease: exercise is medicine.
abstract: 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, hematuria, hyperthermia, and elevated creatine kinase levels after noncompetitive swimming. At that time, he reported a 3-year history of general myalgia and poor exercise tolerance. He was diagnosed with McArdle disease by both biochemical and genetic methods. Subsequently he performed a maximal exercise test and was prescribed a return to age-appropriate physical activity (protected by a pre-exercise dietary consumption of approximately 20 g carbohydrate). At 1-year follow up, he reported no subsequent acute clinical episodes, no general problems with exercise either at school or in ordinary activities, a virtual normalization of serum creatine kinase levels, and a 14% increase in body mass-adjusted peak oxygen uptake (from 18.8 to 21.8 mL O2/kg/min). The results suggest that, with protection by increasing pre-exercise blood glucose with carbohydrate ingestion, a substantially normal lifestyle may be possible in some children with McArdle disease.
authors.affiliation: Department of Exercise Physiology, Universidad Europea de Madrid, Madrid, Spain.
authors.forename: Margarita
authors.initials: M
authors.lastname: Pérez
authors.forename: Carl
authors.initials: C
authors.lastname: Foster
authors.forename: Marta
authors.initials: M
authors.lastname: González-Freire
authors.forename: Joaquín
authors.initials: J
authors.lastname: Arenas
authors.forename: Alejandro
authors.initials: A
authors.lastname: Lucia
mesh_terms: D001786:Blood Glucose / Q000378:metabolism; D002648:Child; D003402:Creatine Kinase / Q000097:blood; D015444:Exercise / Q000502:physiology; D005081:Exercise Therapy; D017079:Exercise Tolerance / Q000502:physiology; D005500:Follow-Up Studies; D006012:Glycogen Storage Disease Type V / Q000178:diet therapy / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D019344:Lactic Acid / Q000097:blood; D008019:Life Style; D008297:Male; D010101:Oxygen Consumption / Q000502:physiology; D013550:Swimming
chemical_list: D001786:Blood Glucose; D019344:Lactic Acid; D003402:Creatine Kinase