背景:肢带肌营养不良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,这可能会导致严重的残疾,心肌病,和通气衰竭.LGMDR9如何影响健康相关生活质量(HRQoL)的知识与治疗和护理有关。
目的:调查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)完成了两项HRQoL测量,即,个体化神经肌肉生活质量问卷(INQoL)和基线时的36项简表(SF-36),8、14个月和9个月时的疲劳和睡眠质量的测量。
结果:HRQoL应答率为84/90(75c.826C>A纯合子和9个c.826C>A复合杂合子)。与挪威的规范数据相比,除男性(p=0.05)和疼痛评分外,所有SF-36领域评分均受损(p≤0.006).在14个月内,在c.826C>A纯合子中,感知的肌肉无力和INQoL指数(疾病负担)恶化。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,无力倾向于恶化,但INQoL指数有所改善。纯合子女性报告的HRQoL普遍较差,负担高于男性。INQoL指数与感知的肌肉无力和疲劳有关,疲劳,肌痛和精神痛苦。疲劳和睡眠不良的患病率分别为40%和49%,分别。
结论:14个月的随访期显示c.826C>A纯合子的感知无力和负担恶化,这是可以预期的。疲劳的患病率和影响表明需要认识和治疗疲劳。肌痛和精神困扰是治疗疲劳的潜在目标,未来的研究需要建立。LGMDR9也需要注意睡眠问题和性别特定的护理需求。
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.