Insomni og søvnrelaterte respirasjonsforstyrrelser ved FKRP-relatert muskeldystrofi i lem-belte R9
Forskere fra Nevromuskulært kompetansesenter, Universitetssykehuset Nord-Norge, Norges arktiske universitet og Sørlandet sykehus HF har i denne studien undersøkt forekomst av insomni og søvnrelaterte respirasjonsforstyrrelser hos pasienter med mutasjon i genet fukutin-related protein FKRP som forårsaker Limb-girdle muskeldystrofi. Studiedeltagerne svarte på spørreskjemaer om søvn, tretthet og helserelatert livskvalitet. Det ble gjort en klinisk vurdering av 49 deltagere, og 26 deltagere uten CPAP eller BIPAP-behandling gjennomgikk i tillegg polysomnografi og kapnografi. Resultatene tyder på at insomni og søvnrelaterte respirasjonsforstyrrelser er komorbide lidelser i denne pasientgruppen og er relatert til helserelatert livskvalitet og hjertesvikt. Insomni og søvnrelaterte respirasjonsforstyrrelser bør utredes og behandles hos denne pasientgruppen.
Synnøve Jensen, Karin Abeler, Oddgeir Friborg, Assami Rosner, Caroline Olsborg, Svein Ivar Mellgren, Kai Ivar Müller, Andreas Dybesland Rosenberger, Monica L Vold, Kjell Arne Arntzen
Studien er publisert i Journal of Neurology
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 < 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.