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

• 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
• ISSN: 0340-5354; 1432-1459; 1432-1459
• DOI: 10.1007/s00415-023-11978-7

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