Because myotonic dystrophy patients show marked irregularities of brea
thing both awake and asleep, variables related to breathing pattern un
der both conditions were measured in 11 patients, together with pulmon
ary function indices, ventilatory CO2 response and maximal mouth press
ures. The aim of the study was to detect and explain a possible interr
elationship between daytime and nocturnal irregularity. Awake, patient
s demonstrated significantly more variability in tidal volume and resp
iratory cycle time than controls. Asleep, periodic breathing occurred
during up to 100% of the time spent in light sleep, but not during dee
p sleep. A strong correlation was found with age (r = 0.73, p = 0.01).
No relationship was found between disturbed breathing awake and aslee
p. There was a tendency for increased variability of tidal volume awak
e in cases with a decreased ventilatory CO2 response (p = 0.1). The re
sults indicate that different mechanisms may be involved in daytime an
d nocturnal irregularity. It is hypothesized that brain stem integrati
ve functions may be impaired in myotonic dystrophy.