Article Text

Download PDFPDF
McArdle’s Disease
  1. David Hilton-Jones
  1. Muscular Dystrophy Campaign Muscle & Nerve Centre, Department of Clinical Neurology, Radcliffe Infirmary, Woodstock Road, Oxford, OX2 6HE, United Kingdom



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 ( 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

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Other content recommended for you