Lifetime Care of Duchenne Muscular Dystrophy

Abstract

Individuals with Duchenne muscular dystrophy (DMD) have evolving sleep and respiratory pathophysiology over their lifetimes. Across the lifespan of DMD, various sleep-related breathing disorders (SRBD) have been described, including obstructive sleep apnea, central sleep apnea, and nocturnal hypoventilation. In addition to SRBD, individuals with DMD can be affected by insomnia, chronic pain and other factors interfering with sleep quality, and daytime somnolence. The natural progression of DMD pathophysiology has changed with the introduction of therapies for downstream pathologic pathways and will continue to evolve with the development of therapies that target function and expression of dystrophin.

Keywords: Duchenne muscular dystrophy; Insomnia hypoventilation; Neuromuscular disease; Noninvasive ventilation; Obstructive sleep apnea; Polysomnogram; Respiratory failure.

Fig. 1

Progression of respiratory pathophysiology and care by stage of disease. (A) Sleep-related respiratory pathophysiology in patients with DMD by stage of disease. (B) Assessments and interventions for respiratory care of patients with DMD by stage of disease. MEP, maximum expiratory pressure; MIP, maximum inspiratory pressure; PCF, peak cough flow; petCO₂, end-tidal partial pressure of CO₂; ptcCO₂, transcutaneous partial pressure of CO₂; SpO₂, blood oxygen saturation by pulse oximetry. ^a See text for definitions of sleep study results. ^b All specified threshold values of PCF, MEP, and MIP apply to older teenage and adult patients. ^c Fatigue, dyspnea, morning or continuous headaches, frequent nocturnal awakenings or difficult arousal, hypersomnolence, difficulty concentrating, awakenings with dyspnea and tachycardia, or frequent nightmares. ^d We strongly endorse the use of noninvasive methods of assisted ventilation instead of tracheostomy to optimize patient quality of life; indications for tracheostomy include patient preference, inability of patient to use noninvasive ventilation successfully, 3 failed extubation attempts during a critical illness despite optimum use of noninvasive ventilation and mechanically assisted coughing, or failure of noninvasive methods of cough assistance to prevent aspiration of secretions into the lungs due to weak bulbar muscles.

Fig. 2

Social and medical considerations during transition to adulthood for young men with DMD.

Fig. 3

Adult patient with DMD using MPV mounted to wheelchair.