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首页> 外文期刊>Archives of Neurology >Broadening the phenotype of childhood-onset dopa-responsive dystonia.
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Broadening the phenotype of childhood-onset dopa-responsive dystonia.

机译：扩大儿童的表型dopa-responsive肌张力障碍。

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BACKGROUND: Dopa-responsive dystonia (DRD) may cause early-onset dystonia, with extrapyramidal or pyramidal tract dysfunction. OBJECTIVE: To broaden the phenotype of DRD. SETTING: Tertiary referral university hospital. PATIENTS: We describe 4 female siblings with genetically confirmed DRD, 3 of whom presented with "unsteadiness" and 1 with scoliosis. All had dystonia and pyramidal tract signs, 3 had additional extrapyramidal features (resting tremor, bradykinesia, or rigidity), and at least 2 had definite signs of cerebellar dysfunction. MAIN OUTCOME MEASURES: The subjective response to treatment with 62.5 mg of a combination product of levodopa and carbidopa 3 times daily was assessed at both 6- and 12-month follow-up visits with the 7-item Patient's Global Impression of Change Scale as very much improved, much improved, a little improved, no different, a little worse, much worse, or very much worse. RESULTS: All patients showed a good response to levodopa therapy 41 to 49 years after symptom onset. CONCLUSION: Cerebellar signs may be observed in patients with DRD and may improve in response to levodopa.
机译：背景:Dopa-responsive肌张力障碍(DRD)导致早发性肌张力障碍,锥体束外的或锥体束功能障碍。扩大DRD的表型。推荐大学医院。描述4姐妹与基因确认DRD 3人了“不稳定”和1与脊柱侧凸。肌张力障碍和锥体束的迹象,3额外的锥体束外的特性(休息震颤、动作迟缓、或刚性),至少2有明确的迹象表明小脑功能障碍。主要结果测量:主观反应结合产品的治疗62.5毫克左旋多巴和卡比多巴每天3次评估在6 - 12个月的后续访问7-item病人的全球的印象变化范围很大程度上改善,改善,改进一点,没有什么不同,一个非常糟,更糟的是,或者更糟。结果:所有患者表现出良好的反应左旋多巴治疗41岁到49年之后症状发病。观察DRD患者,可能会改善对左旋多巴的回应。

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