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麦克尔氏病——一种每位家庭医生都能处理的罕见疾病:病例报告

McArdle's, a Rare Disease That Every Family Doctor Can Manage: A Case Report.

作者信息

Oliveira João R, Pereira João P, Branco Mariana F, Leite Luísa C, Patrício Ana I

机构信息

Family Medicine, ACES (Agrupamento de Centros de Saúde) Gondomar, Porto, PRT.

Famiy Medicine, SESARAM (Serviço de Saúde da Região Autónoma da Madeira), Funchal, PRT.

出版信息

Cureus. 2023 Dec 21;15(12):e50892. doi: 10.7759/cureus.50892. eCollection 2023 Dec.

Abstract

McArdle's disease is a rare autosomal recessive disorder that affects glycogen storage. It typically manifests in adolescence or early adulthood with presenting symptoms, such as fatigue, myalgia, exercise intolerance, and cramps, which can be easily overlooked. This case report seeks to offer a comprehensive overview of the perspective of a patient living with McArdle's disease, emphasizing the importance of treatment encouragement. The report documents the case of a 25-year-old male presenting with myalgia and fatigue exacerbated by strenuous exercise, illustrating the diagnostic challenges associated with McArdle's disease, primarily attributable to clinician unawareness. Furthermore, the case highlights the importance of adhering to lifestyle modifications to mitigate symptoms and prevent flare-ups, as well as the crucial role of the family doctor in such lifestyle maintenance.

摘要

麦卡德尔病是一种罕见的常染色体隐性疾病,会影响糖原储存。它通常在青春期或成年早期出现症状,如疲劳、肌痛、运动不耐受和痉挛,这些症状很容易被忽视。本病例报告旨在全面概述一名麦卡德尔病患者的情况,强调鼓励治疗的重要性。该报告记录了一名25岁男性的病例,他在剧烈运动后出现肌痛和疲劳加剧的症状,说明了与麦卡德尔病相关的诊断挑战,主要原因是临床医生对此缺乏认识。此外,该病例强调了坚持生活方式调整以减轻症状和预防病情发作的重要性,以及家庭医生在维持这种生活方式方面的关键作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/27a9/10799634/62b2c8169097/cureus-0015-00000050892-i01.jpg

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