Sleep breathing disorders in 40 Italian patients with Myotonic dystrophy type 1

Lack of correlation between the ventilatory response to CO2 and lung function impairment in myotonic dystrophy patients: Evidence for a dysregulation at central level

“…The brainstem respiratory network may therefore be affected, leading to a dysfunction of the CO2 sensitive ventilatory control system explaining the reduced ventilator response to CO2 observed in our DM1 population. This instability of the respiratory system control could be in accordance with other suggestive finding such as irregular [10] or even periodic breathing [11] pattern in DM1 patients.…”

“…Numerous clinical findings such as irregular breathing pattern [10], excessive daytime sleepiness [12] or more recently sleep breathing disorders observed in DM1 patients [11] support the hypothesis of a dysregulation of the control of breathing at central level. For example, in a population of Italian DM1 patients, Pincherle et al [11] showed excessive daytime sleepiness (EDS; based on the Epworth Sleepiness Scale) and fatigue (Krupp's Fatigue Severity Scale) in, respectively, 7/40 (17.5%) and 18/40 (45%) patients.…”

“…For example, in a population of Italian DM1 patients, Pincherle et al [11] showed excessive daytime sleepiness (EDS; based on the Epworth Sleepiness Scale) and fatigue (Krupp's Fatigue Severity Scale) in, respectively, 7/40 (17.5%) and 18/40 (45%) patients. Neither EDS nor fatigue was correlated to obstructive sleep apnoea supporting a dysfunction of sleep regulatory circuits in the CNS.…”

“…Indeed, if lung function impairment [5] or cardiac conduction diseases [6,7] have been well described and have a clear prognostic value, the major issues affecting quality of life in DM1 patients are the CNS and cognitive dysfunctions [8,9]. The control of breathing has been shown to be affected, with the description of numerous clinical findings such as irregular breathing pattern [10], sleep breathing disorders [11] or excessive daytime sleepiness [12], supporting a dysregulation at the central level. Respiratory failure is the commonest cause of mortality [13] but the precise role of the dysregulation of the control of breathing needs to be clarified.…”

Association of peripheral neuropathy with sleep-related breathing disorders in myotonic dystrophies

“…In accordance with recent studies, the obstructive events prevailed 10,28. The severity of SRBD was comparable in both types of DM, which is also in line with a previous report 29…”