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Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1
Journal article   Open access   Peer reviewed

Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1

Mark J Hamilton, Antonio Atalaia, John McLean, Sarah A Cumming, Jonathan J Evans, Bob Ballantyne, Ravi Jampana, The Scottish Myotonic Dystrophy Consortium, Cheryl Longman, Eric Livingston, …
Neuromuscular disorders : NMD, Vol.32(5), pp.377-389
05/2022
DOI: 10.1016/j.nmd.2022.02.003
PMID: 35361525
url
https://doi.org/10.1016/j.nmd.2022.02.003View
Published (Version of record) Open Access

Abstract

•Abnormalities of sleep were common in adult outpatients with myotonic dystrophy.•Apneoas were associated with increasing age, male sex and functional impairment.•Changes in sleep architecture showed linear associations with cognitive performance.•Self-reported somnolence was associated with increased hippocampus volume. Abnormalities of sleep are common in myotonic dystrophy type 1 (DM1), but few previous studies have combined polysomnography with detailed clinical measures and brain imaging. In the present study, domiciliary polysomnography, symptom questionnaires and cognitive evaluation were undertaken in 39 DM1-affected individuals. Structural brain MRI was completed in those without contra-indication (n = 32). Polysomnograms were adequate for analysis in 36 participants. Sleep efficiency was reduced, and sleep architecture altered in keeping with previous studies. Twenty participants (56%) had moderate or severe sleep-disordered breathing (apnoea-hypopnoea index [AHI] ≥ 15). In linear modelling, apnoeas were positively associated with increasing age and male sex. AHI ≥ 15 was further associated with greater daytime pCO2 and self-reported physical impairment, somnolence and fatigue. Percentage REM sleep was inversely associated with cerebral grey matter volume, stage 1 sleep was positively associated with occipital lobe volume and stage 2 sleep with amygdala volume. Hippocampus volume was positively correlated with self-reported fatigue and somnolence. Linear relationships were also observed between measures of sleep architecture and cognitive performance. Findings broadly support the hypothesis that changes in sleep architecture and excessive somnolence in DM1 reflect the primary disease process in the central nervous system.
Myotonic dystrophy Polysomnography Sleep-disordered breathing structural MRI

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