McArdle disease (GSDV) is an autosomal recessive disorder characterised by the absence of muscle glycogen phosphorylase. The enzyme deficit results in impaired muscle metabolism with symptoms such as exercise intolerance and muscle pain beginning in childhood. Muscle pain occurs within a few minutes of starting physical activity and can lead to muscle contracture and rhabdomyolysis (RM) if that activity persists or is more vigorous. Muscle contracture and RM in McArdle disease do not just follow exercise and can also be triggered by sustained isometric muscle contraction in everyday activities or ‘unusual’ circumstances [1,2].

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