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

Pincherle, Alessandro; Patruno, Vincenzo; Raimondi, Paola; Moretti, Sabrina; Dominese, Ambra; Boneschi, Filippo Martinelli; Pasanisi, Maria Barbara; Canioni, Eleonora; Salerno, Franco; Deleo, Francesco; Spreafico, Roberto; Mantegazza, Renato; Villani, Flavio; Morandi, Lucia

doi:10.1016/j.nmd.2011.08.010

Cited by 53 publications

(37 citation statements)

References 28 publications

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“…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.…”

Section: Discussionsupporting

confidence: 90%

“…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.…”

Section: Discussionmentioning

confidence: 98%

“…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.…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Introductionmentioning

confidence: 99%

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

Poussel

Thil

Kaminsky

et al. 2015

Neuromuscular Disorders

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Poussel

Thil

Kaminsky

et al. 2015

Neuromuscular Disorders

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“…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…”

Section: Discussionsupporting

confidence: 93%

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

Banach¹,

Antczak²,

Rola

2017

NDT

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BackgroundMyotonic dystrophy (DM) type 1 and type 2 are inherited diseases characterized by myotonia and myopathy. Additional symptoms include, among others, peripheral neuropathy and sleep-related breathing disorders (SRBDs). There is growing evidence for a complex association between DM1 and DM2, which was described in patients with diabetes mellitus and in the general population. In this study, we investigated whether there is an association between peripheral neuropathy and SRBDs also in the population of patients with DM.MethodsThe study included 16 patients with DM1 (mean age, 37.9±14.1 years; 20–69 years) and eight patients with DM2 (mean age, 47.6±14.1 years; 20–65 years), who underwent a sensory and motor nerve conduction study (NCS) and diagnostic screening for SRBDs. In both groups, the NCS parameters were correlated with respiratory parameters.ResultsIn both groups, the amplitude of the ulnar sensory nerve action potential (SNAP) correlated with the mean arterial oxygen saturation (SaO2). In addition, in the DM2 group, the median SNAP correlated with the mean SaO2. In the DM1 group, the median SNAP and the distal motor latency (DML) of the ulnar nerve correlated with the apnea–hypopnea index, while the oxygen desaturation index correlated with the DML of the tibial nerve and with conduction velocity in the sural nerve.ConclusionOur results indicate a complex association between neuropathy and SRBDs in DM1 and DM2. Axonal degeneration may contribute to nocturnal hypoxemia and vice versa. Neuropathy may contribute to muscle weakness, which in turn may cause respiratory events.

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Myotonic Dystrophy

Smits

Martínez-Rodríguez

2018

Sleep Disorders in Neurology

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

Cited by 53 publications

References 28 publications

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

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

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

Myotonic Dystrophy

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