Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)

Limb-girdle muscular dystrophy R9 (LGMDR9) is a progressive and disabling genetic muscle disease. Sleep is relevant in the patient care as it impacts on health, functioning, and well-being. LGMDR9 may potentially affect sleep by physical or emotional symptoms, myalgia, or sleep-disordered breathing...

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Published in:Journal of neurology 2024-01, Vol.271 (1), p.274-288
Main Authors: Jensen, Synnøve, Abeler, Karin, Friborg, Oddgeir, Rosner, Assami, Olsborg, Caroline, Mellgren, Svein Ivar, Müller, Kai Ivar, Rosenberger, Andreas Dybesland, Vold, Monica L., Arntzen, Kjell Arne
Format: Article
Language:English
Subjects:
Adult
Apnea
Cohort Studies
Comorbidity
Congestive heart failure
Fatigue
Fatigue - complications
Humans
Hypoventilation
Insomnia
Medicine
Medicine & Public Health
Muscular Dystrophies, Limb-Girdle - complications
Muscular Dystrophies, Limb-Girdle - epidemiology
Muscular dystrophy
Myalgia
Neurology
Neuroradiology
Neurosciences
Original Communication
Pentosyltransferases
Quality of Life
Respiration
Respiratory function
Sleep Apnea Syndromes - complications
Sleep Apnea Syndromes - epidemiology
Sleep disorders
Sleep Initiation and Maintenance Disorders - epidemiology
Well being
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container_end_page 288
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container_start_page 274
container_title Journal of neurology
container_volume 271
creator Jensen, Synnøve
Abeler, Karin
Friborg, Oddgeir
Rosner, Assami
Olsborg, Caroline
Mellgren, Svein Ivar
Müller, Kai Ivar
Rosenberger, Andreas Dybesland
Vold, Monica L.
Arntzen, Kjell Arne
description Limb-girdle muscular dystrophy R9 (LGMDR9) is a progressive and disabling genetic muscle disease. Sleep is relevant in the patient care as it impacts on health, functioning, and well-being. LGMDR9 may potentially affect sleep by physical or emotional symptoms, myalgia, or sleep-disordered breathing (SDB) through cardiorespiratory involvement. The objective was to investigate the occurrence of insomnia and unrecognized or untreated SDB in LGMDR9, associated factors, and relationships with fatigue and health-related quality of life (HRQoL). All 90 adults in a Norwegian LGMDR9 cohort received questionnaires on sleep, fatigue, and HRQoL. Forty-nine of them underwent clinical assessments and 26 without mask-based therapy for respiration disorders additionally underwent polysomnography (PSG) and capnometry. Among 77 questionnaire respondents, 31% received mask-based therapy. The prevalence of insomnia was 32% of both those with and without such therapy but was significantly increased in fatigued respondents (54% vs 21%). Insomnia levels correlated inversely with mental HRQoL. Among 26 PSG candidates, an apnea–hypopnea index (AHI) ≥ 5/h was observed in 16/26 subjects (≥ 15/h in 8/26) with median 6.8 obstructive apneas and 0.2 central apneas per hour of sleep. The AHI was related to advancing age and an ejection fraction 
doi_str_mv 10.1007/s00415-023-11978-7
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The objective was to investigate the occurrence of insomnia and unrecognized or untreated SDB in LGMDR9, associated factors, and relationships with fatigue and health-related quality of life (HRQoL). All 90 adults in a Norwegian LGMDR9 cohort received questionnaires on sleep, fatigue, and HRQoL. Forty-nine of them underwent clinical assessments and 26 without mask-based therapy for respiration disorders additionally underwent polysomnography (PSG) and capnometry. Among 77 questionnaire respondents, 31% received mask-based therapy. The prevalence of insomnia was 32% of both those with and without such therapy but was significantly increased in fatigued respondents (54% vs 21%). Insomnia levels correlated inversely with mental HRQoL. Among 26 PSG candidates, an apnea–hypopnea index (AHI) ≥ 5/h was observed in 16/26 subjects (≥ 15/h in 8/26) with median 6.8 obstructive apneas and 0.2 central apneas per hour of sleep. The AHI was related to advancing age and an ejection fraction &lt; 50%. Sleep-related hypoventilation was detected in one subject. Fatigue severity did not correlate with motor function or nocturnal metrics of respiration or sleep but with Maximal Inspiratory Pressure (r = − 0.46). The results indicate that insomnia and SDB are underrecognized comorbidities in LGMDR9 and associated with HRQoL impairment and heart failure, respectively. We propose an increased attention to insomnia and SDB in the interdisciplinary care of LGMDR9. 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The Norwegian LGMDR9 cohort study (2020)</atitle><jtitle>Journal of neurology</jtitle><stitle>J Neurol</stitle><addtitle>J Neurol</addtitle><date>2024-01-01</date><risdate>2024</risdate><volume>271</volume><issue>1</issue><spage>274</spage><epage>288</epage><pages>274-288</pages><issn>0340-5354</issn><issn>1432-1459</issn><eissn>1432-1459</eissn><abstract>Limb-girdle muscular dystrophy R9 (LGMDR9) is a progressive and disabling genetic muscle disease. Sleep is relevant in the patient care as it impacts on health, functioning, and well-being. LGMDR9 may potentially affect sleep by physical or emotional symptoms, myalgia, or sleep-disordered breathing (SDB) through cardiorespiratory involvement. The objective was to investigate the occurrence of insomnia and unrecognized or untreated SDB in LGMDR9, associated factors, and relationships with fatigue and health-related quality of life (HRQoL). All 90 adults in a Norwegian LGMDR9 cohort received questionnaires on sleep, fatigue, and HRQoL. Forty-nine of them underwent clinical assessments and 26 without mask-based therapy for respiration disorders additionally underwent polysomnography (PSG) and capnometry. Among 77 questionnaire respondents, 31% received mask-based therapy. The prevalence of insomnia was 32% of both those with and without such therapy but was significantly increased in fatigued respondents (54% vs 21%). Insomnia levels correlated inversely with mental HRQoL. Among 26 PSG candidates, an apnea–hypopnea index (AHI) ≥ 5/h was observed in 16/26 subjects (≥ 15/h in 8/26) with median 6.8 obstructive apneas and 0.2 central apneas per hour of sleep. The AHI was related to advancing age and an ejection fraction &lt; 50%. Sleep-related hypoventilation was detected in one subject. Fatigue severity did not correlate with motor function or nocturnal metrics of respiration or sleep but with Maximal Inspiratory Pressure (r = − 0.46). The results indicate that insomnia and SDB are underrecognized comorbidities in LGMDR9 and associated with HRQoL impairment and heart failure, respectively. We propose an increased attention to insomnia and SDB in the interdisciplinary care of LGMDR9. Insomnia and pulmonary function should be examined in fatigued patients.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>37695533</pmid><doi>10.1007/s00415-023-11978-7</doi><tpages>15</tpages><orcidid>https://orcid.org/0000-0001-9204-5916</orcidid><oa>free_for_read</oa></addata></record>
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source NORA - Norwegian Open Research Archives; Springer Nature
subjects Adult
Apnea
Cohort Studies
Comorbidity
Congestive heart failure
Fatigue
Fatigue - complications
Humans
Hypoventilation
Insomnia
Medicine
Medicine & Public Health
Muscular Dystrophies, Limb-Girdle - complications
Muscular Dystrophies, Limb-Girdle - epidemiology
Muscular dystrophy
Myalgia
Neurology
Neuroradiology
Neurosciences
Original Communication
Pentosyltransferases
Quality of Life
Respiration
Respiratory function
Sleep Apnea Syndromes - complications
Sleep Apnea Syndromes - epidemiology
Sleep disorders
Sleep Initiation and Maintenance Disorders - epidemiology
Well being
title Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
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