脊髓性肌肉萎缩症患者的睡眠和睡眠相关呼吸障碍:新疗法带来的视角变化?

E. Abati, E. Mauri, M. Rimoldi, Barbara Madini, Francesca Patria, G. Comi, Stefania Corti
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摘要

脊髓性肌肉萎缩症(SMA)是一种遗传性神经肌肉疾病,其特征是脊髓中的运动神经元发生变性,导致进行性肌肉无力和萎缩。SMA 的一个重要方面是对呼吸功能的影响。随着病情的发展,呼吸肌,尤其是肋间肌受到的影响越来越大,从而导致呼吸困难和呼吸衰竭。如果不进行干预,许多 1 型 SMA 患儿在出生后第二年就会死于呼吸衰竭。虽然辅助通气提高了存活率,但往往会导致对呼吸机的依赖。新的 SMN 增强疗法的开发使人们重拾乐观,但这些疗法对呼吸功能的长期影响尚不确定,无创呼吸支持仍是 SMA 治疗的重要组成部分。尽管呼吸支持在 SMA 中非常重要,但有关该人群睡眠障碍的知识却很有限。本综述旨在总结有关 SMA 患者睡眠和睡眠相关呼吸紊乱的现有文献,重点关注 SMA 1 型。我们总结了 SMA 患者睡眠呼吸障碍和呼吸衰竭的证据,以及采用或不采用药物疗法的无创或有创通气治疗的效果和生存益处。我们还讨论了目前有关 SMA 新型疾病调节疗法对呼吸功能和睡眠影响的知识。总之,SMA 患儿的最佳治疗需要包括神经科和呼吸科专家在内的多学科方法。本综述强调了监测 SMA 睡眠和呼吸功能的重要性,以及辅助通气与新疗法相结合的潜在益处和挑战。
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Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments?
Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy, resulting from the degeneration of motor neurons in the spinal cord. A critical aspect of SMA is its impact on respiratory function. As the disease progresses, respiratory muscles, in particular intercostal muscles, become increasingly affected, leading to breathing difficulties and respiratory failure. Without intervention, many children with SMA type 1 die from respiratory failure before their second year of life. While assisted ventilation has improved survival, it often results in ventilator dependence. The development of new SMN-augmenting therapies has renewed optimism, but their long-term impact on respiratory function is uncertain, and non-invasive respiratory support remains an important part of SMA management. Despite the importance of respiratory support in SMA, knowledge regarding sleep disorders in this population is limited. This review aims to synthesize existing literature on sleep and sleep-related breathing disorders in patients with SMA, with a focus on SMA type 1. We summarize evidence of sleep-disordered breathing and respiratory failure in SMA, as well as outcomes and survival benefits associated with non-invasive or invasive ventilation with or without pharmacological therapies. We also discuss current knowledge regarding the effects of novel disease-modifying therapies for SMA on respiratory function and sleep. In conclusion, optimal care for children with SMA requires a multidisciplinary approach that includes neurology and respiratory specialists. This review highlights the importance of monitoring sleep and respiratory function in SMA, as well as the potential benefits and challenges associated with assisted ventilation combined with new therapies.
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