Abstract
Respiratory muscle weakness is a major cause of morbidity and mortality in patients with neuromuscular diseases (NMDs). Respiratory involvement in NMDs can manifest broadly, ranging from milder insufficiency that may affect only sleep initially to severe insufficiency that can be life threatening. Patients with neuromuscular diseases exhibit very often sleep-disordered breathing, which is frequently overlooked until symptoms become more severe leading to irreversible respiratory failure necessitating noninvasive ventilation (NIV) or even tracheostomy. Close monitoring of respiratory function and sleep evaluation is currently the standard of care. Early recognition of sleep disturbances and initiation of NIV can improve the quality of life and prolong survival. This review discusses the respiratory impairment during sleep in patients with NMDs, the diagnostic tools available for early recognition of sleep-disordered breathing and the therapeutic options available for overall respiratory management of patients with NMDs.
Highlights
Neuromuscular diseases (NMDs) encompass a diverse group of diseases which may affect the upper motor neurons, lower motor neurons, peripheral nerves, the neuromuscular junction, and muscles
In NMDs impairment of respiratory muscle contractile function leads to respiratory pump failure, characterized by decreases in vital capacity (VC), total lung capacity (TLC) and functional residual capacity (FRC) [54]
VC is considered a robust index for the respiratory evaluation of patients with NMDs, it can be fairly insensitive in early disease stages
Summary
Neuromuscular diseases (NMDs) encompass a diverse group of diseases which may affect the upper motor neurons, lower motor neurons, peripheral nerves, the neuromuscular junction, and muscles This definition may include a large variety of disorders, the term “neuromuscular” is reserved for inherited or acquired diseases predominately manifesting with motor dysfunction. From the pulmonologist’s perspective all NMDs present with a common trait: impairment of ventilatory function. This impairment is caused by either compromised airway patency and protective reflexes and/or by reduced respiratory pump efficiency. These pathophysiological events result in sleep-disordered breathing, followed by diurnal hypoventilation at later disease stages. Patients with myotonic dystrophy commonly exhibit a mild cognitive impairment and a narcolepsy-like clinical phenotype, associated with excessive daytime sleepiness without adequate management for SDB [22, 23]
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