■原发性震颤(ET)被认为是普通人群中最常见的异常运动,5%至30%的患者在儿童期发病。
■一个多中心,描述性横断面研究纳入了18年的患者,根据国际帕金森病和运动障碍协会的标准明确诊断为ET.人口统计数据,震颤的临床和电生理特征,收集神经系统检查和对生活质量的影响。
■包括9名男性和9名女性(平均年龄13.9岁)。震颤的特点是:上肢发病,平均年龄6.5岁;入组时,上肢定位,28%的患者受累于额外的身体区域;所有患者的运动性震颤合并姿势性震颤17例,静息性震颤3例;震颤平均频率为7.6Hz,平均爆发持续时间为82.7ms;在7例患者的多肌电图记录中发现轻度肌阵挛性抽搐;女孩的生活质量改变,情绪结局更差,并且建议疾病持续时间>5年。
■儿童期ET与延迟诊断和显着的功能影响有关。肌电图鉴定其他轻度肌阵鸣是一项新发现,其意义已得到讨论。
■ET发病涉及上肢和包涵体,28%的患者表现出额外的身体区域受累。ET影响所有患者的生活质量。受影响超过5年的女孩和患者报告了更糟糕的情绪结果。在7/17多肌造影记录中发现了轻度肌阵挛性抽搐。
Essential tremor (ET) is considered the most frequent abnormal movement in the general population, with childhood onset in 5 to 30% of the patients.
A multicenter, descriptive cross-sectional study enrolled patients ⩽18 years with a definite diagnosis of ET according to the International Parkinson and Movement Disorders Society criteria. Demographic data, clinical and electrophysiological characteristics of the tremor, neurological examination and impact on quality of life were collected.
9 males and 9 females were included (mean age of 13.9 years). Tremor was characterized by : upper limb onset at a mean age of 6.5 years; at enrollment, upper limbs localization, and involvement of an additional body region in 28% of the patients; kinetic tremor in all of the patients combined with postural tremor in 17 and rest tremor in 3; tremor mean frequency of 7.6 Hz, mean burst duration of 82.7 ms; identification of mild myoclonic jerks on the polymyographic recordings in 7 patients; altered quality of life with worse emotional outcomes in girls and when a disease duration >5 years was suggested.
Childhood-onset ET is associated with delayed diagnosis and remarkable functional impact. Electromyographic identification of additional mild myoclonus is a new finding whose significance is discussed.
ET onset involved upper limbs and at inclusion, 28% of the patients exhibited involvement of an additional body region.ET impacted quality of life for all patients.Girls and patients affected for >5 years reported worse emotional outcomes.Mild myoclonic jerks were identified on 7/17 polymyographic recordings.