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dc.contributor.authorJensen, Synnøve M
dc.contributor.authorFriborg, Oddgeir
dc.contributor.authorMellgren, Svein Ivar
dc.contributor.authorMüller, Kai Ivar
dc.contributor.authorBergvik, Svein Hugo
dc.contributor.authorArntzen, Kjell Arne
dc.date.accessioned2024-10-17T11:07:16Z
dc.date.available2024-10-17T11:07:16Z
dc.date.issued2024-01-02
dc.description.abstractBackground: Limb-girdle muscular dystrophy R9 (LGMDR9) is a chronic progressive hereditary muscle disease, related to the Fukutin Related Protein (FKRP) gene, that may cause major disabilities, cardiomyopathy, and ventilatory failure. Knowledge of how LGMDR9 affects health-related quality of life (HRQoL) is relevant in treatment and care.<p> <p>Objective: To investigate HRQoL in the Norwegian LGMDR9 population over 14 months and relation to fatigue and sleep quality.<p> <p>Methods: Participants (16+ years) of the Norwegian LGMDR9 cohort study completed two HRQoL measures, i.e., Individualized Neuromuscular Quality of Life questionnaire (INQoL) and the 36-item Short Form (SF-36) at baseline, 8, and 14 months and measures of fatigue and sleep quality at 9 months.<p> <p>Results: HRQoL response rate was 84/90 (75 c.826 C > A homozygotes and nine c.826 C > A compound heterozygotes). Compared to Norwegian normative data, all SF-36 domain scores were impaired (p≤0.006) except mental health in males (p = 0.05) and pain scores. During 14 months, perceived muscle weakness and the INQoL index (disease burden) worsened in c.826 C > A homozygotes. Compound heterozygotes reported more dysphagia and physical difficulties than homozygotes and showed a tendency towards worsening in weakness over time but some improvement on the INQoL index. Homozygous females reported generally poorer HRQoL and a higher burden than males. The INQoL index was related to perceived muscle weakness and fatigue, and fatigue to myalgia and mental distress. The prevalence of fatigue and poor sleep was 40% and 49%, respectively.<p> <p>Conclusions: The 14-month follow-up period shows a worsening of perceived weakness and burden in c.826 C > A homozygotes, which can then be expected. The prevalence and impact of fatigue indicate a need for awareness and treatment of fatigue. Myalgia and mental distress are potential targets in the treatment of fatigue, which future studies need to establish. Sleep issues and gender-specific care needs also require attention in LGMDR9.en_US
dc.identifier.citationJensen, Friborg, Mellgren, Müller, Bergvik, Arntzen. Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9. Journal of Neuromuscular Diseases. 2024;11(1):59-74
dc.identifier.cristinIDFRIDAID 2234507
dc.identifier.doi10.3233/JND-221629
dc.identifier.issn2214-3599
dc.identifier.issn2214-3602
dc.identifier.urihttps://hdl.handle.net/10037/35285
dc.language.isoengen_US
dc.publisherIOS Pressen_US
dc.relation.journalJournal of Neuromuscular Diseases
dc.rights.holderCopyright 2024 The Author(s)en_US
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0en_US
dc.rightsAttribution-NonCommercial 4.0 International (CC BY-NC 4.0)en_US
dc.titleHealth-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9en_US
dc.type.versionpublishedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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