Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study
Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study
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DOI：
10.1136/jnnp-2019-321794
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发表时间：
2020-03-01
影响因子：
11
通讯作者：
Perlmutter, Joel S.
中科院分区：
文献类型：
--
作者：
Berman, Brian D.;Groth, Christopher L.;Perlmutter, Joel S.
目的孤立性局灶性肌张力障碍可以扩散到最初受影响的身体区域以外的肌肉，但尚未以前瞻性的方式评估扩散的风险。此外，有传播风险的身体区域和与传播风险相关的临床因素尚未得到很好的表征。我们在这里寻求前瞻性的传播风险在最近诊断的成人发病孤立局灶性肌张力障碍patients.Methods患者参加了肌张力障碍联盟孤立肌张力障碍影响颈部，上面部，手或喉在发病时的症状。随访访视的时间根据症状发作的滑动量表确定，范围为1 - 4年。描述性统计，Kaplan-Meier生存曲线和考克斯比例风险回归模型被用来评估与肌张力障碍spread.Results相关的临床特征487名参与者（68.3%女性，平均年龄：55.6 +/- 12.2岁）符合我们的纳入/排除标准。50%的眼睑痉挛、8%的颈肌张力障碍、17%的手肌张力障碍和16%的喉肌张力障碍病例中观察到扩散。眼睑痉挛最常见的首发部位是口下颌部（42.2%）和颈部（22.4%），颈部肌张力障碍最常见的部位是手（3.5%），手部（12.8%）和喉部（15.8%）肌张力障碍最常见的部位是颈部。扩散风险增加与阳性家族史（HR=2.18，p=0.012）和自我报告的酒精反应性（HR=2.59，p=0.009）有关。结论孤立性局灶性肌张力障碍患者的初始身体部位受影响具有不同的风险和扩散模式。遗传因素可能会影响传播的风险。这些发现可以帮助临床验证，并为未来对潜在疾病修饰治疗的研究提供信息。
Objective Isolated focal dystonia can spread to muscles beyond the initially affected body region, but risk of spread has not been evaluated in a prospective manner. Furthermore, body regions at risk for spread and the clinical factors associated with spread risk are not well characterised. We sought here to prospectively characterise risk of spread in recently diagnosed adult-onset isolated focal dystonia patients.Methods Patients enrolled in the Dystonia Coalition with isolated dystonia affecting only the neck, upper face, hand or larynx at onset of symptoms were included. Timing of follow-up visits was based on a sliding scale depending on symptom onset and ranged from 1 to 4 years. Descriptive statistics, Kaplan-Meier survival curves and Cox proportional hazard regression models were used to assess clinical characteristics associated with dystonia spread.Results 487 enrolled participants (68.3% women; mean age: 55.6 +/- 12.2 years) met our inclusion/exclusion criteria. Spread was observed in 50% of blepharospasm, 8% of cervical dystonia, 17% of hand dystonia and 16% of laryngeal dystonia cases. Most common regions for first spread were the oromandibular region (42.2%) and neck (22.4%) for blepharospasm, hand (3.5%) for cervical dystonia and neck for hand (12.8%) and laryngeal (15.8%) dystonia. Increased spread risk was associated with a positive family history (HR=2.18, p=0.012) and self-reported alcohol responsiveness (HR=2.59, p=0.009).Conclusions Initial body region affected in isolated focal dystonia has differential risk and patterns of spread. Genetic factors likely influence the risk of spread. These findings can aid clinical prognostication and inform future investigations into potential disease-modifying treatments.