Abati Elena, Mauri Eleonora, Rimoldi Martina, Madini Barbara, Patria Francesca, Comi Giacomo Pietro, Corti Stefania
Neurology Unit, Department of Neuroscience and Mental Health, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, Milan, Italy.
Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.
Front Neurol. 2024 Jun 4;15:1299205. doi: 10.3389/fneur.2024.1299205. eCollection 2024.
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.
脊髓性肌萎缩症（SMA）是一种遗传性神经肌肉疾病，其特征为进行性肌肉无力和萎缩，由脊髓运动神经元变性所致。SMA的一个关键方面是其对呼吸功能的影响。随着疾病进展，呼吸肌，尤其是肋间肌，受影响越来越大，导致呼吸困难和呼吸衰竭。若不进行干预，许多1型SMA患儿在2岁前死于呼吸衰竭。虽然辅助通气提高了生存率，但往往导致对呼吸机的依赖。新型增加存活运动神经元（SMN）疗法的出现重新燃起了希望，但其对呼吸功能的长期影响尚不确定，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，但关于该人群睡眠障碍的知识有限。本综述旨在综合现有关于SMA患者睡眠及睡眠相关呼吸障碍的文献，重点关注1型SMA。我们总结了SMA中睡眠呼吸障碍和呼吸衰竭的证据，以及无创或有创通气联合或不联合药物治疗的结果和生存益处。我们还讨论了目前关于SMA新型疾病修正疗法对呼吸功能和睡眠影响的知识。总之，对SMA患儿的最佳护理需要多学科方法，包括神经科和呼吸科专家。本综述强调了监测SMA患者睡眠和呼吸功能的重要性，以及辅助通气联合新疗法的潜在益处和挑战。
