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A Case Report of McArdle Disease Diagnosed Following Statin-Induced Myositis

McArdle disease is a rare condition, characterized by a deficiency of phosphorylase muscle isoform, an enzyme responsible for the breaking down of glycogen, necessary for obtaining energy. Patients typically present with exercise intolerance, myalgias, fatigue, cramps, muscle stiffness, and/or weakn...

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Autores principales: Teles, João S, Ramos, Catarina T, Almeida, Beatriz M, Sousa, Anabela V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10552332/
https://www.ncbi.nlm.nih.gov/pubmed/37809236
http://dx.doi.org/10.7759/cureus.44701
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author Teles, João S
Ramos, Catarina T
Almeida, Beatriz M
Sousa, Anabela V
author_facet Teles, João S
Ramos, Catarina T
Almeida, Beatriz M
Sousa, Anabela V
author_sort Teles, João S
collection PubMed
description McArdle disease is a rare condition, characterized by a deficiency of phosphorylase muscle isoform, an enzyme responsible for the breaking down of glycogen, necessary for obtaining energy. Patients typically present with exercise intolerance, myalgias, fatigue, cramps, muscle stiffness, and/or weakness induced by physical activity. The diagnosis is generally established late, with a median delay of about 29 years. We present the case of a female patient with a long history of myalgias, muscle weakness, and exercise intolerance, diagnosed with McArdle disease by the age of 74, after statin-induced myopathy. We aim to review the diagnosis and treatment of this disease, as a way to raise awareness among the medical community.
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spelling pubmed-105523322023-10-06 A Case Report of McArdle Disease Diagnosed Following Statin-Induced Myositis Teles, João S Ramos, Catarina T Almeida, Beatriz M Sousa, Anabela V Cureus Family/General Practice McArdle disease is a rare condition, characterized by a deficiency of phosphorylase muscle isoform, an enzyme responsible for the breaking down of glycogen, necessary for obtaining energy. Patients typically present with exercise intolerance, myalgias, fatigue, cramps, muscle stiffness, and/or weakness induced by physical activity. The diagnosis is generally established late, with a median delay of about 29 years. We present the case of a female patient with a long history of myalgias, muscle weakness, and exercise intolerance, diagnosed with McArdle disease by the age of 74, after statin-induced myopathy. We aim to review the diagnosis and treatment of this disease, as a way to raise awareness among the medical community. Cureus 2023-09-05 /pmc/articles/PMC10552332/ /pubmed/37809236 http://dx.doi.org/10.7759/cureus.44701 Text en Copyright © 2023, Teles et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Family/General Practice
Teles, João S
Ramos, Catarina T
Almeida, Beatriz M
Sousa, Anabela V
A Case Report of McArdle Disease Diagnosed Following Statin-Induced Myositis
title A Case Report of McArdle Disease Diagnosed Following Statin-Induced Myositis
title_full A Case Report of McArdle Disease Diagnosed Following Statin-Induced Myositis
title_fullStr A Case Report of McArdle Disease Diagnosed Following Statin-Induced Myositis
title_full_unstemmed A Case Report of McArdle Disease Diagnosed Following Statin-Induced Myositis
title_short A Case Report of McArdle Disease Diagnosed Following Statin-Induced Myositis
title_sort case report of mcardle disease diagnosed following statin-induced myositis
topic Family/General Practice
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10552332/
https://www.ncbi.nlm.nih.gov/pubmed/37809236
http://dx.doi.org/10.7759/cureus.44701
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