McArdle disease: What do neurologists need to know?

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dc.contributor.author Lucía Mulas, Alejandro spa
dc.contributor.author Nogales-Gadea, Gisela spa
dc.contributor.author Pérez Ruiz, Margarita spa
dc.contributor.author Martín, Miguel Ángel spa
dc.contributor.author Andreu, Antoni L. spa
dc.contributor.author Arenas, Joaquín spa
dc.date.accessioned 2013-11-27T17:26:28Z
dc.date.available 2013-11-27T17:26:28Z
dc.date.issued 2008 spa
dc.identifier.citation Lucía-Mulas, A., Nogales-Gadea, G., Pérez-Ruiz, M., Martín, M. A., Andreu, A. L., & Arenas, J. (2008). McArdle disease: what do neurologists need to know? Nature Clinical Practice Neurology, 4(10), 568-577. spa
dc.identifier.issn 17458358 spa
dc.identifier.uri http://hdl.handle.net/11268/752
dc.description.abstract McArdle disease (also known as glycogen storage disease type V) is a pure myopathy caused by an inherited deficit of myophosphorylase, the skeletal muscle isoform of the enzyme glycogen phosphorylase. The disease exhibits clinical heterogeneity, but patients typically experience exercise intolerance, that is, reversible, acute crises (early fatigue and contractures, sometimes with rhabdomyolysis and myoglobinuria) triggered by static muscle contractions (e.g. lifting weights) or dynamic exercise (e.g. climbing stairs or running). In this Review, we discuss the main features of McArdle disease, with the aim of providing neurologists with up-to-date, useful information to assist their patients. The topics covered include diagnostic tools-for example, molecular genetic diagnosis, the classic ischemic forearm test and the so-called 'second wind' phenomenon-and current therapeutic options-for example, a carbohydrate-rich diet and carbohydrate ingestion shortly before strenuous exercise, in combination with medically supervised aerobic training of low to moderate intensity. spa
dc.language.iso eng spa
dc.subject.other Glycogen Storage Disease Type V* spa
dc.subject.other Humans spa
dc.subject.other Neurology/Education spa
dc.title McArdle disease: What do neurologists need to know? spa
dc.type article spa
dc.description.impact 6.979 JCR (2008) Q1, 5/156 Clinical neurology spa
dc.identifier.doi 10.1038/ncpneuro0913   spa
dc.rights.accessRights openAccess en
dc.subject.unesco Enfermedad nutricional spa
dc.subject.unesco Tratamiento médico spa
dc.description.filiation UEM spa
dc.peerreviewed Si spa

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