Respiratory problems in myotonic dystrophy and their management

Abstract

Abstract Respiratory problems are a significant cause of mortality and morbidity in myotonic dystrophy. Three large cohort studies have reported respiratory problems as the leading cause of death in forms of myotonic dystrophy (43%, Mathieu et al. 1999), in adult-onset myotonic dystrophy (31%, de Die-Smulders et al 1998) and in congenital myotonic dystrophy (Reardon et al. 1993). Twenty­ six per cent of patients with ‘non-congenital> myotonic dystrophy have been recorded as having a history of significant pulmonary complications (Johnson et al. 1995). Respiratory aspects of the disorder may interact with other features; for instance, the potential for arrhythmia will be increased in the presence of hypoxia; peri- and postoperative complications will often be respiratory in nature; somnolence may be an indication of hypercapnia; and dysphagia will lead to increased risk of aspiration pneumonia.