%0 Journal Article
%T McArdle disease: a case report and review
%A Leite A
%A Oliveira N
%A Rocha M
%J International Medical Case Reports Journal
%D 2012
%I Dove Medical Press
%R http://dx.doi.org/10.2147/IMCRJ.S28664
%X Ardle disease: a case report and review Case report (2074) Total Article Views Authors: Leite A, Oliveira N, Rocha M Published Date January 2012 Volume 2012:5 Pages 1 - 4 DOI: http://dx.doi.org/10.2147/IMCRJ.S28664 Received: 29 November 2011 Accepted: 12 December 2011 Published: 20 January 2012 Alberto Leite, Narciso Oliveira, Manuela Rocha Internal Medicine Department, Hospital de Braga, Portugal Abstract: McArdle disease (glycogen storage disease type V) is a pure myopathy caused by an inherited deficit of myophosphorylase. The disease exhibits clinical heterogeneity, but patients typically experience exercise intolerance, acute crises of early fatigue, and contractures, sometimes with rhabdomyolysis and myoglobinuria, triggered by static muscle contractions or dynamic exercise. We present the case of a 54-year-old man with a lifelong history of fatigability, worsening on exertion. Laboratory evaluation revealed significant elevations in levels of creatine kinase (7924 U/L), lactate dehydrogenase (624 U/L), and myoglobulin (671 ng/mL). A muscle biopsy confirmed the presence of McArdle disease. This case report illustrates how, due to embarrassment, the patient hid his symptoms for many years and was eventually extremely relieved and ˇ°liberatedˇ± once McArdle disease was diagnosed 40 years later.
%K McArdle disease
%K glycogen storage disease
%K myophosphorylase
%U https://www.dovepress.com/mcardle-disease-a-case-report-and-review-peer-reviewed-article-IMCRJ