Ventilatory assistance in patients with Duchenne muscular dystrophy

Abstract

Duchenne muscular dystrophy (DMD) leads to progressive muscle weakness, causing respiratory failure 1, 2. Untreated patients die at <25 yrs of age, and the mean age of death in the 1960s was 15 yrs. The introduction of mechanical ventilation has improved survival compared with historical controls 1–3. This finding has led to general agreement that noninvasive ventilation prolongs life in patients with DMD, although no controlled studies have been performed to confirm this hypothesis 4. Noninvasive mechanical ventilation is initially offered at night to treat sleep-related breathing disorders and hypoventilation, which are common in patients with DMD 5, 6. Breathing during sleep should be evaluated by polysomnography with continuous CO2 monitoring 7, or by continuous CO2 monitoring alone if polysomnography is not available. Overnight pulse oximetry combined with an early-morning arterial blood gas measurement (to detect a base excess) may also be used to monitor nocturnal ventilation. As the disease progresses, hypoventilation starts to occur during the daytime, and additional daytime ventilation is offered 4. When noninvasive mechanical ventilation is inadequately effective, poorly tolerated or not feasible owing to …