Respiratory care in muscular dystrophy

Abstract Respiratory problems are a major cause of morbidity and mortality in the muscular dystrophies. Indeed, in Duchenne muscular dystrophy (DMD) respiratory complications are the cause of death in over 70 per cent of patients, and virtually all Duchenne patients will develop ventilatory insufficiency if they survive long enough. In the other muscular dystrophies the extent of respiratory compromise will depend on the degree of respiratory muscle involvement, the presence of a thoracic scoliosis and level of bulbar weakness. In congenital muscular dystrophy merosin negative individuals seem more prone to early respiratory failure than merosin positive patients. Ventilatory failure is relatively uncommon, although not unknown in facioscapulohumeral muscular dystrophy, and has a variable prevalence in limb girdle MD. Although ventilatory support has been used sporadically in neuromuscular patients with chronic ventilatory failure for over 50 years, in the last decade the use of non-invasive ventilation has had a significant impact on survival and long-term outcome, particularly in DMD patients. In this chapter the natural history of respiratory problems in the muscular dystrophies is discussed, with particular emphasis on monitoring, identifying high-risk patients, and the outcome of therapeutic interventions.