[墨西哥 5q 型脊髓性肌萎缩症患者使用改变病情疗法的情况]。

María Elena Meza-Cano, Carlos Molina-Castillo
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引用次数: 0

摘要

5q脊髓性肌肉萎缩症(SMA)是一种常染色体隐性遗传的运动神经元疾病,会导致四肢、躯干、横膈膜和球部肌肉无力;如果不进行治疗,会导致严重的运动障碍甚至死亡。美国食品药品管理局(FDA)和墨西哥联邦卫生风险保护委员会(COFEPRIS)已经批准了 3 种疗法来增加存活运动神经元(SMN)蛋白的生成,并改善患者的肌肉力量和生活质量,这 3 种疗法是:nusinersen、onasemnogene abeparvovec xioi 和 risdiplam。尽管这些疗法已显示出疗效,但目前还无法确定哪种疗法优于其他疗法。最重要的是确定疾病的诊断,并开始任何一种可用的治疗方法,以避免进一步的功能障碍和防止死亡。这三种治疗方法的作用机制不同,不良反应也不同,因此必须根据患者的具体情况因人而异地使用每一种治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Use of disease-modifying therapies in spinal muscular atrophy 5q in Mexico].

5q Spinal Muscular Atrophy (SMA) is an autosomal recessive motor neuron disease that causes weakness in the limbs, trunk, diaphragm, and bulbar muscles; without treatment it can lead to severe motor disability and even death. The Food and Drug administration (FDA) and COFEPRIS (Mexico's Federal Committee for Protection against Sanitary Risks) have approved 3 therapies to increase the production of survival motor neuron (SMN) protein and improve muscle strength and quality of life in patients: nusinersen, onasemnogene abeparvovec xioi, and risdiplam. Despite the fact that these therapies have shown efficacy, at the moment it is not possible to establish which of them is superior compared to the others. The most important thing is to establish the diagnosis of the disease and start any of the available treatments to avoid further functional disability and prevent death. The 3 treatments have different mechanisms of action and different adverse effects, and the use of each of them must be individualized according to the patient's profile.

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