PDF(Pubmed)
Abstract：
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.
摘要：
脊髓性肌萎缩症(SMA)是一种以进行性肌无力和萎缩为特征的遗传性神经肌肉疾病,脊髓运动神经元变性的结果.SMA的一个关键方面是其对呼吸功能的影响。随着疾病的进展,呼吸肌,尤其是肋间肌,越来越受到影响，导致呼吸困难和呼吸衰竭。如果没有干预,许多1型SMA患儿在第二年前死于呼吸衰竭.虽然辅助通气提高了生存率，它经常导致呼吸机依赖。新的SMN增强疗法的发展再次令人乐观，但是它们对呼吸功能的长期影响是不确定的，无创呼吸支持仍然是SMA管理的重要组成部分。尽管呼吸支持在SMA中很重要,关于这一人群睡眠障碍的知识是有限的。这篇综述旨在综合现有的关于SMA患者睡眠和睡眠相关呼吸障碍的文献。专注于SMA类型1。我们总结了SMA患者睡眠呼吸紊乱和呼吸衰竭的证据，以及与非侵入性或有创通气有或无药物治疗相关的结局和生存获益。我们还讨论了有关SMA新型疾病修饰疗法对呼吸功能和睡眠的影响的最新知识。总之,对SMA儿童的最佳护理需要多学科的方法，包括神经病学和呼吸专家。这篇综述强调了监测睡眠和呼吸功能在SMA中的重要性，以及辅助通气联合新疗法的潜在益处和挑战。
