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REVIEW article

Front. Neurol.
Sec. Neuromuscular Disorders and Peripheral Neuropathies
Volume 15 - 2024 | doi: 10.3389/fneur.2024.1299205
This article is part of the Research Topic Sleep Disorders in Neuromuscular Diseases: Treatable Conditions View all 4 articles

Sleep and sleep-related breathing disorders in patients with Spinal Muscular Atrophy: a changing perspective from novel treatments?

Provisionally accepted
Elena Abati Elena Abati 1,2Eleonora Mauri Eleonora Mauri 2Martina Rimoldi Martina Rimoldi 2Barbara Madini Barbara Madini 2Maria Francesca Patria Maria Francesca Patria 2Giacomo P. Comi Giacomo P. Comi 1,2Stefania Corti Stefania Corti 1,2*
  • 1 University of Milan, Milan, Lombardy, Italy
  • 2 IRCCS Ca 'Granda Foundation Maggiore Policlinico Hospital, Milan, Lombardy, Italy

The final, formatted version of the article will be published soon.

    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.

    Keywords: spinal muscular atrophy, Sleep, Respiratory disorders, Sleep-related breathing disorders, non-invasive ventilation

    Received: 22 Sep 2023; Accepted: 07 May 2024.

    Copyright: © 2024 Abati, Mauri, Rimoldi, Madini, Patria, Comi and Corti. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Stefania Corti, University of Milan, Milan, 20122, Lombardy, Italy

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.