HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Hilton-Jones, D. Search for Related Content PubMed Articles by Hilton-Jones, D.

McArdle’s Disease

Muscular Dystrophy Campaign Muscle & Nerve Centre, Department of Clinical Neurology, Radcliffe Infirmary, Woodstock Road, Oxford, OX2 6HE, United Kingdom

EXTRACT

INTRODUCTION

McArdle’s disease (McArdle 1951) (myophosphorylase deficiency, glycogen storage disease type V, OMIM 232600) is undoubtedly rare. No accurate incidence figures are available. Even large specialist muscle clinics are unlikely to see more than one new case a year. In the United Kingdom (population ~55 million), 55 patients are known to the Association for Glycogen Storage Disease (http://www.agsd.org.uk/). Despite its rarity, it is worth having some knowledge about it for two main reasons. Firstly, it is a diagnosis often considered in patients presenting with exercise induced myalgia or myoglobinuria, and it is important to know how to exclude it. Secondly, an understanding of the biochemical basis of the disease provides insight into other metabolic myopathies.

It is an autosomal recessive disorder, but in reported cases there is a higher frequency of males. The myophosphorylase gene is on chromosome 11. Many mutations have been reported, and compound heterozygotes are common (Tsujino ...

[PDF of this article]