Nelson Caroline, Stephen Christopher D, Penney Ellen B, Lee Hang, Park Elyse R, Sharma Nutan, Dy-Hollins Marisela E
Department of Neurology, Massachusetts General Hospital, Boston, MA, United States.
Harvard Medical School, Boston, MA, United States.
Dystonia. 2025;4. doi: 10.3389/dyst.2025.13711. Epub 2025 Mar 12.
Dystonia is the third most common movement disorder. Motor and non-motor manifestations of dystonia may impact Health Related Quality of Life (HRQoL), with lower HRQoL scores compared to the healthy population. People with generalized dystonia report worse HRQoL scores (vs. people with focal distributions). Social determinants of health (SDOH) may play a role in HRQoL outcomes in dystonia, but scant data exists. We aimed to examine differences in HRQoL scores in people with focal vs. non-focal (e.g., segmental, multifocal, generalized) dystonia and the association with SDOH.
129 participants with isolated dystonia, who were recruited through Mass General Brigham movement disorders clinic and enrolled in the Dystonia Partners Research Bank, completed a follow-up survey on SDOH and HRQoL: Quality of Life in Neurological Disorders Version 2.0 Short Form (Neuro- QoL-SF) and the EuroGroup 5-level (Euro-QoL). Linear regression analyses were performed.
Participants with isolated dystonia were predominantly female (72.1%), non-Hispanic white (79.8%), and highly educated (79.8%; ≥ bachelor's degree). 71.3% of the participants had focal dystonia and 28.7% of the participants had non-focal dystonia. Participants with focal dystonia (vs. non-focal dystonia) reported older age at diagnosis (49.2 ± 11.7 vs. 40.6 ± 19.2, p = 0.004). Participants with focal dystonia (vs. non-focal dystonia) reported higher (i.e., better) overall health scores (80.4 ± 13.9 vs. 72.8 ± 13.5, p = 0.005), higher ability to participate in social activities (51.3 ± 7.7 vs. 47.2 ± 6.0, p = 0.003), lower fatigue (44.7 ± 8.4 vs. 49.8 ± 7.2, p = 0.001), and lower sleep disturbance (48.0 ± 8.2 vs. 53.0 ± 7.9, p = 0.002). Independent predictors of higher overall health ratings included focal distribution of dystonia (b = 7.5; p = 0.01), a higher level of education (b = 9.2; p = 0.04) and not having a mental health diagnosis (b = 7.5; p = 0.01).
Participants with focal dystonia were diagnosed later and had higher (i.e., better) HRQoL measures vs. participants with non-focal dystonia. Predictors of better HRQoL were having focal dystonia and higher level of education, whereas the presence of a mental health diagnosis was associated with lower HRQoL (i.e., worse) scores. SDOH such as employment status, medical literacy, and ability to afford basic needs may influence HRQoL ratings for participants with isolated dystonia. Our findings may not be generalizable to the general population of patients with isolated dystonia. We highlight areas for further research and development.
肌张力障碍是第三常见的运动障碍。肌张力障碍的运动和非运动表现可能会影响健康相关生活质量（HRQoL），与健康人群相比，其HRQoL得分较低。全身性肌张力障碍患者报告的HRQoL得分更差（与局灶性分布患者相比）。健康的社会决定因素（SDOH）可能在肌张力障碍的HRQoL结果中起作用，但相关数据很少。我们旨在研究局灶性与非局灶性（如节段性、多灶性、全身性）肌张力障碍患者HRQoL得分的差异以及与SDOH的关联。
通过麻省总医院布莱根运动障碍诊所招募并纳入肌张力障碍伙伴研究库的129例孤立性肌张力障碍患者，完成了关于SDOH和HRQoL的随访调查：神经疾病生活质量量表第2.0版简表（Neuro-QoL-SF）和欧洲五维度健康量表（Euro-QoL）。进行了线性回归分析。
孤立性肌张力障碍患者以女性为主（72.1%），非西班牙裔白人（79.8%），且受教育程度高（79.8%；≥学士学位）。71.3%的参与者患有局灶性肌张力障碍，28.7%的参与者患有非局灶性肌张力障碍。局灶性肌张力障碍患者（与非局灶性肌张力障碍患者相比）诊断时年龄较大（49.2±11.7岁 vs. 40.6±19.2岁，p = 0.004）。局灶性肌张力障碍患者（与非局灶性肌张力障碍患者相比）报告的总体健康得分更高（即更好）（80.4±13.9 vs. 72.8±13.5，p =
