Sleep apnoea and hypoventilation in patients with five major types of muscular dystrophy

Background The characteristics of and relationship between sleep apnoea and hypoventilation in patients with muscular dystrophy (MD) remain to be fully understood.Methods We analysed 104 in-laboratory sleep studies of 73 patients with MD with five common types (DMD—Duchenne, Becker MD, CMD—congenita...

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Main Authors: Min Shi, David M Umbach, Yuanyuan Li, Leping Li, Pallav Halani, Mihye Ahn, Deryck S C Yeung, Bradley Vaughn, Zheng Jane Fan
Format: Article
Language:English
Published: BMJ Publishing Group 2023-07-01
Series:BMJ Open Respiratory Research
Online Access:https://bmjopenrespres.bmj.com/content/10/1/e001506.full
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author Min Shi
David M Umbach
Yuanyuan Li
Leping Li
Pallav Halani
Mihye Ahn
Deryck S C Yeung
Bradley Vaughn
Zheng Jane Fan
author_facet Min Shi
David M Umbach
Yuanyuan Li
Leping Li
Pallav Halani
Mihye Ahn
Deryck S C Yeung
Bradley Vaughn
Zheng Jane Fan
author_sort Min Shi
collection DOAJ
description Background The characteristics of and relationship between sleep apnoea and hypoventilation in patients with muscular dystrophy (MD) remain to be fully understood.Methods We analysed 104 in-laboratory sleep studies of 73 patients with MD with five common types (DMD—Duchenne, Becker MD, CMD—congenital, LGMD—limb-girdle and DM—myotonic dystrophy). We used generalised estimating equations to examine differences among these types for outcomes.Results Patients in all five types had high risk of sleep apnoea with 53 of the 73 patients (73%) meeting the diagnostic criteria in at least one study. Patients with DM had higher risk of sleep apnoea compared with patients with LGMD (OR=5.15, 95% CI 1.47 to 18.0; p=0.003). Forty-three per cent of patients had hypoventilation with observed prevalence higher in CMD (67%), DMD (48%) and DM (44%). Hypoventilation and sleep apnoea were associated in those patients (unadjusted OR=2.75, 95% CI 1.15 to 6.60; p=0.03), but the association weakened after adjustment (OR=2.32, 95% CI 0.92 to 5.81; p=0.08). In-sleep average heart rate was about 10 beats/min higher in patients with CMD and DMD compared with patients with DM (p=0.0006 and p=0.02, respectively, adjusted for multiple testing).Conclusion Sleep-disordered breathing is common in patients with MD but each type has its unique features. Hypoventilation was only weakly associated with sleep apnoea; thus, high clinical suspicion is needed for diagnosing hypoventilation. Identifying the window when respiratory muscle weakness begins to cause hypoventilation is important for patients with MD; it enables early intervention with non-invasive ventilation—a therapy that should both lengthen the expected life of these patients and improve its quality.Cite Now
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spelling doaj-art-cf8f3c0f908c409fab3ffd9ee583e4a62025-08-20T03:02:02ZengBMJ Publishing GroupBMJ Open Respiratory Research2052-44392023-07-0110110.1136/bmjresp-2022-001506Sleep apnoea and hypoventilation in patients with five major types of muscular dystrophyMin Shi0David M Umbach1Yuanyuan Li2Leping Li3Pallav Halani4Mihye Ahn5Deryck S C Yeung6Bradley Vaughn7Zheng Jane Fan8Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USABiostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA1 Department of Psychological Medicine, Zhongshan Hospital Fudan University, Shanghai, China2 Department of Gastrointestinal Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, ChinaDivision of Pediatric Pulmonology, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USADepartment of Mathematics and Statistics, University of Nevada Reno, Reno, Nevada, USABiostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USADepartment of Neurology, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USADepartment of Neurology, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USABackground The characteristics of and relationship between sleep apnoea and hypoventilation in patients with muscular dystrophy (MD) remain to be fully understood.Methods We analysed 104 in-laboratory sleep studies of 73 patients with MD with five common types (DMD—Duchenne, Becker MD, CMD—congenital, LGMD—limb-girdle and DM—myotonic dystrophy). We used generalised estimating equations to examine differences among these types for outcomes.Results Patients in all five types had high risk of sleep apnoea with 53 of the 73 patients (73%) meeting the diagnostic criteria in at least one study. Patients with DM had higher risk of sleep apnoea compared with patients with LGMD (OR=5.15, 95% CI 1.47 to 18.0; p=0.003). Forty-three per cent of patients had hypoventilation with observed prevalence higher in CMD (67%), DMD (48%) and DM (44%). Hypoventilation and sleep apnoea were associated in those patients (unadjusted OR=2.75, 95% CI 1.15 to 6.60; p=0.03), but the association weakened after adjustment (OR=2.32, 95% CI 0.92 to 5.81; p=0.08). In-sleep average heart rate was about 10 beats/min higher in patients with CMD and DMD compared with patients with DM (p=0.0006 and p=0.02, respectively, adjusted for multiple testing).Conclusion Sleep-disordered breathing is common in patients with MD but each type has its unique features. Hypoventilation was only weakly associated with sleep apnoea; thus, high clinical suspicion is needed for diagnosing hypoventilation. Identifying the window when respiratory muscle weakness begins to cause hypoventilation is important for patients with MD; it enables early intervention with non-invasive ventilation—a therapy that should both lengthen the expected life of these patients and improve its quality.Cite Nowhttps://bmjopenrespres.bmj.com/content/10/1/e001506.full
spellingShingle Min Shi
David M Umbach
Yuanyuan Li
Leping Li
Pallav Halani
Mihye Ahn
Deryck S C Yeung
Bradley Vaughn
Zheng Jane Fan
Sleep apnoea and hypoventilation in patients with five major types of muscular dystrophy
BMJ Open Respiratory Research
title Sleep apnoea and hypoventilation in patients with five major types of muscular dystrophy
title_full Sleep apnoea and hypoventilation in patients with five major types of muscular dystrophy
title_fullStr Sleep apnoea and hypoventilation in patients with five major types of muscular dystrophy
title_full_unstemmed Sleep apnoea and hypoventilation in patients with five major types of muscular dystrophy
title_short Sleep apnoea and hypoventilation in patients with five major types of muscular dystrophy
title_sort sleep apnoea and hypoventilation in patients with five major types of muscular dystrophy
url https://bmjopenrespres.bmj.com/content/10/1/e001506.full
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