The diagnosis and treatment of McArdle's disease

Elise McKeon, Robyn Kewley

Research output: Contribution to journalArticlepeer-review


McArdle's disease is a medical condition where the absence of glycogen phosphorylase protein in skeletal muscle causes symptoms of exercise intolerance. In the past, diagnosis of McArdle's disease was suggested by high levels of plasma creatine kinase and also by the failure of lactate levels to rise in the ischaemic forearm test. This diagnosis was then confirmed by a negative histochemical staining for phosphorylase activity in a muscle biopsy. Less invasive procedures are also currently used in addition to these tests. This review examines the different methods used to diagnose McArdle's disease and discusses various approaches in the management of the disease.
Original languageEnglish
Pages (from-to)184-190
Number of pages7
JournalAustralian Journal of Medical Science
Issue number4
Publication statusPublished - 2004
Externally publishedYes


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