Clinical Approach to Respiratory Dysfunction in Myotonic Dystrophy Type 1: Evaluation of Sleep-Disordered Breathing and Noninvasive Ventilation–Based Pulmonary Rehabilitation Strategies
Year: 2025
Type: article
Abstract: Myotonic dystrophy (DM) type 1 is a progressive multisystem disorder with significant respiratory complications accounting for up to 70% of mortality. Sleep-disordered breathing affects 50-80% of DM type 1 patients, profoundly impacting quality of life and prognosis. This review comprehensively addresses pathophysiology of respiratory dysfunction, diagnostic approaches including pulmonary function testing and polysomnography, and contemporary management strategies. Key interventions include positive airway pressure therapy for sleep apnea, noninvasive ventilatory support for nocturnal hypoventilation, airway clearance techniques, and pharmacological/non-pharmacological management of excessive daytime sleepiness. Recent evidence highlights the complexity of excessive daytime sleepiness, involving both sleep-disordered breathing and central nervous system dysfunction, necessitating a multifaceted therapeutic approach. Early detection through regular monitoring of forced vital capacity, maximal inspiratory pressure, and nocturnal gas exchange, combined with proactive intervention before respiratory failure develops, are essential for improving outcomes. Individualized treatment plans, patient education on disease progression and self-management optimize long-term prognosis in this challenging population.
Author: Won Ah Choi
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W7125962961