title: Exercise and Preexercise Nutrition as Treatment for McArdle Disease.
abstract: McArdle disease is due to an inborn defect in the muscle isoform of glycogen phosphorylase (or "myophosphorylase"), the enzyme that catalyzes the first step of glycogenolysis. This condition is still not fully understood, and although advances in research would help patients immeasurably, these would also enhance our understanding of exercise metabolism. It has been 10 yr since the first published report demonstrating the benefits of regular aerobic exercise for these patients. However, misconceptions remain and the value of exercise prescription for patients with McArdle disease is still overlooked. Here, we review the role of exercise in McArdle disease with the aim to better inform health-care professionals and thus better serve the interests of patients. Recommendations for regular exercise together with preexercise nutrition in children and adult patients are also provided along with examples of exercise practice and its benefits.
authors.affiliation: 1Translational Research Laboratoy in Neuromuscular Diseases, Neurosciences Department, Germans Trias i Pujol Research Institute and Campus Can Ruti, Autonomous University of Barcelona, Badalona, SPAIN; 2Sports Sciences and Computing Department, Pablo de Olavide University, Sevilla, SPAIN; 312 de Octubre Hospital Research Institute (i + 12), Madrid, SPAIN; 4Mitochondrial and Neuromuscular Diseases Laboratory, 12 de Octubre Hospital, Madrid, SPAIN; 5Centre for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute, Madrid, SPAIN; 6Centre for Sports Medicine and Human Performance, Brunel University, London, UNITED KINGDOM; 7Neuromuscular and Mitochondrial Pathology Department, Vall d'Hebron University Hospital, Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, SPAIN; 8Rare Diseases Unit, Pediatric Service, Germans Trias i Pujol University Hospital, Badalona, Barcelona, SPAIN; 9Neuromuscular Unit Neurology Service, Germans Trias i Pujol University Hospital, Badalona, Barcelona, SPAIN; and 10School of Research and Doctorate Studies, European University, Madrid, SPAIN.
authors.forename: Gisela
authors.initials: G
authors.lastname: Nogales-Gadea
authors.forename: Alfredo
authors.initials: A
authors.lastname: Santalla
authors.forename: Alfonsina
authors.initials: A
authors.lastname: Ballester-Lopez
authors.forename: Joaquín
authors.initials: J
authors.lastname: Arenas
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: Martín
authors.forename: Richard
authors.initials: R
authors.lastname: Godfrey
authors.forename: Tomàs
authors.initials: T
authors.lastname: Pinós
authors.forename: Guillem
authors.initials: G
authors.lastname: Pintos-Morell
authors.forename: Jaume
authors.initials: J
authors.lastname: Coll-Cantí
authors.forename: Alejandro
authors.initials: A
authors.lastname: Lucia
mesh_terms: D005081:Exercise Therapy; D006012:Glycogen Storage Disease Type V / Q000628:therapy*; D006801:Humans; D009747:Nutritional Physiological Phenomena