TY - JOUR 
A1 - Santalla Hernández, Alfredo
AU - Nogales-Gadea, Gisela
AU - Ortenblad, Niels
AU - Brull, Astrid
AU - Luna, Noemí de
AU - Pinós, Tomás
AU - Lucía Mulas, Alejandro
T1 - McArdle disease: a unique study model in sports medicine
Y1 - 2014
SN - 01121642

UR - http://hdl.handle.net/11268/4024
AB - McArdle disease is arguably the paradigm of exercise intolerance in humans. This disorder is caused by inherited deficiency of myophosphorylase, the enzyme isoform that initiates glycogen breakdown in skeletal muscles. Because patients are unable to obtain energy from their muscle glycogen stores, this disease provides an interesting model of study for exercise physiologists, allowing insight to be gained into the understanding of glycogen-dependent muscle functions. Of special interest in the field of muscle physiology and sports medicine are also some specific (if not unique) characteristics of this disorder, such as the so-called 'second wind' phenomenon, the frequent exercise-induced rhabdomyolysis and myoglobinuria episodes suffered by patients (with muscle damage also occurring under basal conditions), or the early appearance of fatigue and contractures, among others. In this article we review the main pathophysiological features of this disorder leading to exercise intolerance as well as the currently available therapeutic possibilities.
KW - Sports Medicine
KW - Enfermedades - McArdle
KW - Ejercicio físico
KW - Genética
KW - Ciencia
KW - Salud
KW - Medicina deportiva
LA - eng
ER -