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

IF 3.2 4区医学 Q2 CLINICAL NEUROLOGY

Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI:10.3233/JND-221629

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

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引用次数: 0

Abstract

Background: 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.

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

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.

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.

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.

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FKRP相关四肢环肌营养不良患者的健康相关生活质量R9。

背景：肢带型肌营养不良R9（LGMDR9）是一种慢性进行性遗传性肌肉疾病，与Fukutin相关蛋白（FKRP）基因有关，可能导致严重残疾、心肌病和通气衰竭。了解LGMDR9如何影响健康相关的生活质量（HRQoL）与治疗和护理相关。目的：研究14个月以上挪威LGMDR9人群的HRQoL及其与疲劳和睡眠质量的关系。方法：挪威LGMDR9队列研究的参与者（16岁以上）在基线、8个月和14个月完成了两项HRQoL测量，即个性化神经肌肉生活质量问卷（INQoL）和36项简表（SF-36），并在9个月完成疲劳和睡眠质量测量。结果：HRQoL有效率为84/90（75c.826 C > 一个纯合子和九个c.826 C > 一种复合杂合子）。与挪威标准数据相比，除了男性的心理健康（p = 0.05）和疼痛评分。在14个月内，感知到的肌肉无力和INQoL指数（疾病负担）在约826时恶化 C > 纯合子。复合杂合子比纯合子报告了更多的吞咽困难和身体困难，并且随着时间的推移，虚弱有恶化的趋势，但INQoL指数有所改善。纯合子女性的HRQoL通常比男性差，负担也更高。INQoL指数与感知到的肌肉无力和疲劳有关，疲劳与肌痛和精神痛苦有关。疲劳和睡眠不足的患病率分别为40%和49%。结论：14个月的随访期显示c.826患者感知到的虚弱和负担加重 C > 纯合子，这是可以预期的。疲劳的普遍性和影响表明需要对疲劳进行认识和治疗。肌痛和精神痛苦是治疗疲劳的潜在靶点，未来的研究需要确定。睡眠问题和特定性别的护理需求也需要LGMDR9的关注。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of neuromuscular diseases Medicine-Neurology (clinical)

CiteScore

5.10

自引率

6.10%

发文量

102

期刊介绍： The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.