Abstract
A 24 year old man presenting with lower limb muscle pains in early exercise since childhood and recent episodes of rhabdomyolysis associated with markedly elevated creatine kinase levels. There was no family history of neuromuscular disease. Genetic analysis of PYGM demonstrated compound heterozygous mutations confirming McArdle’s disease (myophophorylase deficiency, glycogenosis type V).
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References
Quinlivan R, Buckley J, James M, Twist A, Ball S, Duno M, Vissing J, Bruno C, Cassandrini D, Roberts M, Winer J, Rose M, Sewry C. McArdle disease: a clinical review. J Neurol Neurosurg Psychiatry. 2010a;81(11):1182–8.
Quinlivan R, Martinuzzi A, Schoser B. Pharmacological and nutritional treatment for McArdle disease (glycogen storage disease type V). Cochrane Database Syst Rev. 2010b;12, CD003458.
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Pitceathly, R.D.S., Holton, J.L., Quinlivan, R. (2017). When the Wind Comes Back. In: Manji, H., Turner, C., Evans, M. (eds) Neuromuscular Disease . Springer, London. https://doi.org/10.1007/978-1-4471-2389-7_43
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DOI: https://doi.org/10.1007/978-1-4471-2389-7_43
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