Breathing pattern awake and asleep in patients with myotonic dystrophy

Abstract

Patients with myotonic dystrophy often have an irregular pattern of breathing at rest, implying abnormality of breathing control. No central medullary defect has been found in such patients. We postulated that irregular breathing in myotonic dystrophy due to abnormal central respiratory output would persist during slow-wave sleep. We examined the patterns of breathing whilst awake and asleep in seven patients with myotonic dystrophy, seven similarly weak nonmyotonic subjects and seven normal controls. Polysomnography was performed, and the coefficients of variation (CoV) of the breath intervals were analysed during different stages of sleep. The myotonic group showed significantly greater variation in breath intervals than the other two groups whilst awake (median CoV 37 vs 18% for nonmyotonics) and during light sleep (31 vs 13%). This difference was not evident during slow-wave sleep (median CoV 12 vs 9% in nonmyotonic). We conclude that irregular breathing in patients with myotonic dystrophy whilst awake and during light sleep, does not persist during slow-wave sleep. These results suggest that "behavioural" influences play a role in the abnormal breathing pattern found in myotonic dystrophy. The source of the irregular breathing is unlikely to be found in the medulla, but may originate from forebrain influences.