Respiratory issues and current management in neuromuscular diseases: a narrative review

Abstract

Background and objective: Respiratory care is often embedded as a component of the overlapping management strategies in many patients with neuromuscular disease (NMD). Implementation of respiratory care strategies requires a sensitivity to the nature of the disease, the vulnerability during rapid eye movement (REM) sleep and complicating comorbidities specific to each patient. Care must adjust to progression of the disease as well as the comfort and preferences of the patient. Clinical presentations are usually heterogenous based on the specific NMD and overall course of the disease making diagnosis and respiratory care challenging. The aim of this review was to review the state-of-the-art evidence-based clinical practices and updates in the management of respiratory complications in patients with NMDs.

Methods: We conducted a search on the PubMed and Medline databases using these keywords: secretions, neuromuscular disease, neuromuscular disorders, non-invasive ventilator, neuromuscular respiratory weakness, respiratory failure. The specified timeframe began from 1980 to 2024.

Key content and findings: Timely use of non-invasive ventilation and overall respiratory care is most important as emerging evidence shows some benefits with improved mortality in this group of patients. In some settings, comorbid complications that dictate need for airway management and oral diversion may have a more profound impact on mortality than the effectiveness of ventilatory support that are chosen. A multidisciplinary team approach to care has been shown to improve the quality of life and survival in these patients in centers of excellence. Patients should have the ability to access services provided by neurology, pulmonology, speech pathology, sleep medicine, cardiology and respiratory therapy services.

Conclusions: The cornerstone for management of respiratory failure and sleep disordered breathing in NMD is non-invasive ventilation (NIV). Initiation of this support and other respiratory cares need to be timely, and patients may have very subtle symptoms during the early stages of the disease which makes it challenging in recognizing the onset of respiratory muscle stress and fatigue. Close attention to these symptoms as well as respiratory and radiologic parameters is essential for appropriate incorporation of these cares.

Keywords: Neuromuscular disease (NMD); neuromuscular respiratory weakness; non-invasive ventilation (NIV); respiratory failure.

Figure 1

Physiology of neuromuscular respiratory weakness.

Figure 2

Indication for use of RADs in neuromuscular disease in accordance with CMS guidelines. RAD, respiratory assist device; CMS, Centers for Medicare & Medicaid Services; ABG, arterial blood gases; MIP, maximal inspiratory pressure; NMD, neuromuscular disease; ONO, nocturnal oximetry; COPD, chronic obstructive pulmonary disease; FVC, forced vital capacity; PaCO₂, arterial partial pressure of carbon dioxide; FiO₂, inspiratory fraction of oxygen.

Figure 3

Management of impaired airway clearance. PCF, peak cough flow; MI-E, mechanical insufflation-exsufflation.

Figure 4

Management of drooling.