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Journal of Child Neurology
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Exercise Capacity in a Child With McArdle Disease

Margarita Pérez, MD, PhD

Universidad Europea de Madrid

José L. Maté-Muñoz, MSc

Universidad Europea de Madrid

Carl Foster, PhD

Department of Exercise and Sport Science, University of Wisconsin-La Crosse

Juan C. Rubio, MSc

Hospital Universitario 12 de Octubre, Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain

Antoni L. Andreu, MD, PhD

Centre d'Investigacions en Bioquímica y Biología Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain

Miguel A. Martín, PhD

Hospital Universitario 12 de Octubre, Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain

Joaquín Arenas, PhD

Hospital Universitario 12 de Octubre, Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain

Alejandro Lucia, MD, PhD

Universidad Europea de Madrid, alejandro.lucia{at}uem.es

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 performed treadmill exercise to symptom limitation. His peak oxygen uptake (18.8 mL/kg/min) and ventilatory threshold (16.0 mL/kg/min) were reduced by 40% and 20% compared with healthy age-matched and gender-matched controls. The results suggest that exercise capacity is reduced early in life in patients with McArdle disease and suggest the need for prophylactic exercise training (following pre-exercise feeding to prevent rhabdomyolysis) to minimize deconditioning.

Key Words: glycogenosis type V • myophosphorylase • neuromuscular disease • peak oxygen uptake

Journal of Child Neurology, Vol. 22, No. 7, 880-882 (2007)
DOI: 10.1177/0883073807304206
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 Br. J. Sports. Med.Home page
F Gomez-Gallego, C Santiago, M Moran, M Perez, J L Mate-Munoz, M F. del Valle, J C Rubio, I Garcia-Consuegra, C Foster, I A L Andreu, et al.
The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease
Br. J. Sports Med., February 1, 2008; 42(2): 134 - 140.
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