Document Detail


McArdle disease: what do neurologists need to know?
MedLine Citation:
PMID:  18833216     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Alejandro Lucia; Gisela Nogales-Gadea; Margarita Pérez; Miguel A Martín; Antoni L Andreu; Joaquín Arenas
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Nature clinical practice. Neurology     Volume:  4     ISSN:  1745-8358     ISO Abbreviation:  Nat Clin Pract Neurol     Publication Date:  2008 Oct 
Date Detail:
Created Date:  2008-10-03     Completed Date:  2008-12-30     Revised Date:  2011-07-19    
Medline Journal Info:
Nlm Unique ID:  101261799     Medline TA:  Nat Clin Pract Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  568-77     Citation Subset:  IM    
Affiliation:
Department of Physiology, Universidad Europea de Madrid, Madrid, Spain. alejandro.lucia@uem.es
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MeSH Terms
Descriptor/Qualifier:
Glycogen Storage Disease Type V*
Humans
Neurology / education

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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