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Novel therapies for neuromuscular disease: What are the respiratory and sleep implications?


Sleep Medicine Network

Home-Based Mechanical Ventilation & Neuromuscular Disease Section

Novel therapies for neuromuscular disease: What are the respiratory and sleep implications?

The natural history of respiratory impairment in children and adults with progressive neuromuscular disease (NMD) often follows a predictable progression. Muscle weakness leads to sleep-disordered breathing and sleep-related hypoventilation, followed by diurnal hypoventilation, and, ultimately leads to respiratory failure. A number of disease-specific and society guidelines provide protocols for anticipatory respiratory monitoring, such as the role of polysomnography, pulmonary function testing, and respiratory muscle strength testing. They also guide the treatment of respiratory symptoms, such as when to initiate cough augmentation and assisted ventilation.

The emergence of disease-modifying therapies over the last decade has changed the landscape of a number of neuromuscular diseases, including spinal muscular atrophy (SMA) and Duchenne muscular dystrophy. There are now cases of children with SMA type 1, who subsequent to treatment, are walking independently. Studies examining the impact of these therapies on motor function use standardized assessments, but there are limited studies assessing pulmonary and sleep outcomes (Gurbani N, et al. Pediatr Pulmonol. 2021;56[4]:700).

Researchers are also assessing the role of home testing to diagnose hypoventilation (Shi J, et al. Sleep Med. 2023;101:221-7) and using tools like positive airway pressure device data to guide treatment with noninvasive ventilation (Perrem L et al. Pediatr Pulmonol. 2020;55[1]:58-67). While these advances in therapy are exciting, we still do not know what the long-term respiratory function, prognosis, or disease progression may be. Questions remain regarding how to best monitor, and at what frequency to assess, the respiratory status in these patients.

Moshe Y. Prero, MD

Section Member-at-Large

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