Teles João S, Ramos Catarina T, Almeida Beatriz M, Sousa Anabela V
Family Medicine, Unidade de Saúde Familiar (USF) Brás-Oleiro, Agrupamento de Centros de Saúde (ACeS) Gondomar, Porto, PRT.
Cureus. 2023 Sep 5;15(9):e44701. doi: 10.7759/cureus.44701. eCollection 2023 Sep.
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.
麦克尔迪氏病是一种罕见病症,其特征是磷酸化酶肌肉同工型缺乏,该酶负责糖原分解,而糖原分解是获取能量所必需的。患者通常表现为运动不耐受、肌痛、疲劳、痉挛、肌肉僵硬和/或由体力活动诱发的肌无力。诊断通常较晚确立,中位延迟约为29年。我们报告一例有长期肌痛、肌无力和运动不耐受病史的女性患者,在他汀类药物诱发肌病后,74岁时被诊断为麦克尔迪氏病。我们旨在回顾这种疾病的诊断和治疗方法,以提高医学界对此的认识。