One-year follow-up in a child with McArdle disease: exercise is medicine

Pediatric Neurology
Margarita PérezAlejandro Lucia

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 Mc...Continue Reading

References

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Aug 24, 2007·Journal of Child Neurology·Margarita PérezAlejandro Lucia

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Citations

Sep 5, 2009·Journal of Clinical Neuromuscular Disease·R Ted AbreschGregory T Carter
Jul 17, 2014·Sports Medicine·Alfredo SantallaAlejandro Lucia
Sep 4, 2012·Physical Medicine and Rehabilitation Clinics of North America·R Ted AbreschCraig M McDonald
May 30, 2009·Neuromuscular Disorders : NMD·Margarita PérezAlejandro Lucía
Apr 29, 2015·Human Mutation·Gisela Nogales-GadeaTomàs Pinós
Jul 24, 2014·Journal of Inherited Metabolic Disease·Gisela Nogales-GadeaTomàs Pinós
Jul 27, 2012·Journal of Child Neurology·Sergio García-BenítezAlejandro Lucia
Dec 19, 2017·Medicine and Science in Sports and Exercise·Irene Rodríguez-GómezIgnacio Ara
May 9, 2013·Neuromolecular Medicine·Juliana Gurgel-GiannettiMariz Vainzof
Nov 13, 2015·Medicine and Science in Sports and Exercise·Gisela Nogales-GadeaAlejandro Lucia
Jun 21, 2020·International Journal of Environmental Research and Public Health·Irene Rodríguez-GómezIgnacio Ara

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