Evidence map›Paper›PMID 37927270›Full record

ArticleJournal of neuromuscular diseases2024

Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9.

Synnøve M Jensen, Oddgeir Friborg, Svein Ivar Mellgren, Kai Ivar Müller, Svein Bergvik, Kjell Arne Arntzen

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 36% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 2 citations in OpenAlex.

  1. Assessing Quality of Life in Genetic Cardiomyopathies: A Scoping Review.International journal of environmental research and public health · 2026
    Article
  2. Article
  3. Observational
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

Synnøve M JensenNational Neuromuscular Centre Norway and Department of Neurology, University Hospital of North Norway (UNN), Tromsø, Norway.
Oddgeir FriborgDepartment of Psychology, Faculty of Health Sciences, University of Tromsø -The Artic University of Norway, Tromsø, Norway.
Svein Ivar MellgrenNational Neuromuscular Centre Norway and Department of Neurology, University Hospital of North Norway (UNN), Tromsø, Norway.
Kai Ivar MüllerNational Neuromuscular Centre Norway and Department of Neurology, University Hospital of North Norway (UNN), Tromsø, Norway.
Svein BergvikDepartment of Psychology, Faculty of Health Sciences, University of Tromsø -The Artic University of Norway, Tromsø, Norway.
Kjell Arne ArntzenNational Neuromuscular Centre Norway and Department of Neurology, University Hospital of North Norway (UNN), Tromsø, Norway.
UiT The Arctic University of Norway · NOUniversity Hospital of North Norway · NOSørlandet Sykehus · NO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLimb-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.

objectiveTo investigate HRQoL in the Norwegian LGMDR9 population over 14 months and relation to fatigue and sleep quality.

methodsParticipants (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.

resultsHRQoL 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.

conclusionsThe 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.

Indexed as

Muscular Dystrophies, Limb-GirdlePentosyltransferasesCohort StudiesFatigueFemaleHumansMaleMuscle WeaknessMyalgiaQuality of LifeFKRP protein, humanPentosyltransferasesfatigueLimb-girdleMuscular dystrophiesquality of lifesleep quality

Identifiers

PMID37927270
PMCPMC10789334
OpenAlexW4388075495

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.