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 afect 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 signifcantly 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

Nasjonal anbefaling for utredning og behandling av døgnrytmelidelser

Source at https://www.helse-bergen.no/nasjonal-kompetansetjeneste-for-sovnsykdommer-sovno/tidsskriftet-sovn.Nasjonal kompetansetjeneste for søvnsykdommer (fra 2023: Nasjonalt senter for søvnmedisin) nedsatte høsten 2022 en arbeidsgruppe for å utvikle en nasjonal anbefaling for utredning og behandling av døgnrytmelidelser. Gruppen bestod av personer med ulik yrkesbakgrunn (allmennlege, psykolog, psykiater, klinisk nevrofysiolog, fysiolog, sykepleier), som alle har forskningskompetanse innen fagområdet. Gruppen hadde en to-dagers fysisk samling i Bergen hvor det meste av arbeidet ble ferdigstilt. Målgruppen for anbefalingen er klinikere som utreder og behandler pasienter med søvn- og døgnrytmeproblemer. Vi har i anbefalingen valgt å vektlegge funn og resultater fra norske studier