背景:震颤障碍仍然是临床诊断,最常见的非帕金森病震颤之间的误诊率相对较高。
目的:比较无其他特征(纯ET)的原发性震颤的临床特征,ET加软肌张力障碍征(ET+DS),和震颤合并肌张力障碍(TwD)。
方法:我们比较了纯ET患者的临床特征,ET+DS,和TwD加入了ITAlian震颤网络(TITAN)。使用线性回归模型来确定与健康状况和生活质量相关的因素。
结果:纳入了三百八十三例患者。两组之间的性别分布显着不同,纯ET中男性和TwD中女性的比例更高。两组之间震颤的初始部位不同,大约40%的TwD具有头部震颤,而ETDS发作时单侧上肢震颤。这种模式反映了检查时明显的肌张力障碍和软肌张力障碍的分布。感官把戏,任务特异性,职位依赖更常见,但不是排他性的,TwD。纯ET患者的酒精反应度最低,ET+DS最高。与其他组相比,TwD中的中线震颤更常见且更严重。回归分析表明,震颤的严重程度,性别,年龄,和较小程度的变量\“组\”,独立预测健康状况和生活质量,表明除了震颤之外还存在其他决定因素。
结论:纯ET和TwD表现为表型重叠,这需要识别诊断生物标志物。ET+DS与两个校正子共享功能,提示组内异质性。
BACKGROUND: Tremor disorders remain as clinical diagnoses and the rate of misdiagnosis between the commonest non-parkinsonian tremors is relatively high.
OBJECTIVE: To compare the clinical features of Essential Tremor without other features (pure ET), ET plus soft dystonic signs (ET + DS), and
tremor combined with dystonia (TwD).
METHODS: We compared the clinical features of patients with pure ET, ET + DS, and TwD enrolled in The ITAlian tremor Network (TITAN). Linear regression models were performed to determine factors associated with health status and quality of life.
RESULTS: Three-hundred-eighty-three patients were included. Sex distribution was significantly different between the groups with males being more represented in pure ET and females in TwD. The initial site of
tremor was different between the groups with about 40% of TwD having head
tremor and ET + DS unilateral upper limb
tremor at onset. This pattern mirrored the distribution of overt dystonia and soft dystonic signs at examination. Sensory trick, task-specificity, and position-dependence were more common, but not exclusive, to TwD. Pure ET patients showed the lowest degree of alcohol responsiveness and ET + DS the highest. Midline
tremor was more commonly encountered and more severe in TwD than in the other groups. Regression analyses demonstrated that tremor severity, sex, age, and to a lesser degree the variable \"group\", independently predicted health status and quality of life, suggesting the existence of other determinants beyond tremor.
CONCLUSIONS: Pure ET and TwD manifest with a phenotypic overlap, which calls for the identification of diagnostic biomarkers. ET + DS shared features with both syndromes, suggesting intra-group heterogeneity.