When laziness unveils the disease - a case of McArdle disease
DOI:
https://doi.org/10.5712/rbmfc11(38)1277Keywords:
Glycogen Storage Disease Type V. Physicians. Primary Health Care. Rare DiseasesAbstract
McArdle’s disease is a rare, autosomal recessive disease, manifesting through exercise intolerance, myalgia and myoglobinuria crises by rhabdomyolysis. Renal failure and muscular ischemia associated with inhaled anesthetics and muscle relaxants may occur. This is a case of a 38-year-old man who presented repeated complaints of fatigue, palpitations and “feeling that the muscle blocked up and shrunk” (sic) during exercise, forcing him to stop. These complaints occurred since adolescence and ceased with exercise reduction. The patient was evaluated and had a CPK of 554mcg/L, without other alterations in the exams, thus being referred to a Neurology appointment by his family doctor. He then was submitted to a muscular biopsy which later revealed McArdle’s disease. The family doctor should be able to manage cases that arise nonspecifically, valuing specific and persistent complaints over time and remain alert for situations that suggest an uncommon disease.
Downloads
Metrics
References
Leite A, Oliveira N, Rocha M. McArdle disease: a case report and review. Int Med Case Rep J. 2012;5:1-4. DOI: http://dx.doi.org/10.2147/IMCRJ.S28664 DOI: https://doi.org/10.2147/IMCRJ.S28664
Quinlivan R, Buckley J, James M, Twist A, Ball S, Duno M, et al. McArdle disease: a clinical review. J Neurol Neurosurg Psychiatry. 2010;81(11):1182-8. DOI: http://dx.doi.org/10.1136/jnnp.2009.195040 DOI: https://doi.org/10.1136/jnnp.2009.195040
Santalla A, Nogales-Gadea G, Ørtenblad N, Brull A, de Luna N, Pinós T, et al. McArdle disease: a unique study model in sports medicine. Sports Med. 2014;44(11):1531-44. DOI: http://dx.doi.org/10.1007/s40279-014-0223-5 DOI: https://doi.org/10.1007/s40279-014-0223-5
Papazian O, Rivas-Chacón R. Miopatías metabólicas. Rev Neurol. 2013;57(Supl 1):S65-73. DOI: https://doi.org/10.33588/rn.57S01.2013257
Braakhekke JP, de Bruin MI, Stegeman DF, Wevers RA, Binkhorst RA, Joosten EM. The second wind phenomenon in McArdle’s disease. Brain. 1986;109(Pt 6):1087-101. DOI: http://dx.doi.org/10.1093/brain/109.6.1087 DOI: https://doi.org/10.1093/brain/109.6.1087
Allen J, Gay B, Crebolder H, Heyrman J, Svab I, Ram P, et al.; WONCA Europe. The European Definition of General Practice/Family Medicine. Ljubljana: WONCA Europe; 2011.
Downloads
Published
How to Cite
Issue
Section
License
By submitting a manuscript to the RBMFC, authors retain ownership of the copyright in the article, and authorize RBMFC to publish that manuscript under the Creative Commons Attribution 4.0 license and identify itself as the vehicle of its original publication.