多巴反应性肌张力障碍七例报告
肌张力障碍|左旋多巴,关键词：
关键词：肌张力障碍；左旋多巴
【摘要 】 目的 加强对多巴反应性肌张力障碍的认识和重视。方法 描述我院收治的来自5个家庭7例患者的临床表现、辅助检查及治疗情况。结果 男1例，女6例，其中4例为2对姐妹。发病年龄3个月至8岁，平均3.1岁，治疗前平均病程12.3年，均表现为缓慢起病的四肢僵硬、活动困难，部分患者伴有肢体震颤、构音不清、吞咽困难，症状均呈晨轻暮重。体检：均有四肢肌张力铅管样或齿轮样增高，多以左侧明显，双下肢腱反射活跃至亢进，部分患者病理征阳性，病程长者可有脊柱和足部畸形。辅助检查除部分患者血清酶增高外，头颅CT、MRI、单光子发射断层扫描、神经电生理检查均正常。小剂量多巴制剂对7例患者均有明显疗效，左旋多巴平均剂量为84.8mg/d(美多巴或帕金宁控释片)，使用最长者已达15年，无需增大剂量。结论 本病是一种较为罕见的遗传性运动障碍疾病，临床诊断不难，小剂量多巴制剂有显著、持续疗效，早期治疗效果好。
Dopa-responsivedystonia of seven cases CHEN Rong , LIANG Xiuling, LI Xunhua, et al. Department of Neurology,First Affiliated Hospital, SunYat-Sen University of Medical Sciences, Guangzhou 510080
510080
【 Abstract 】 Objective To attach importance to therecognization of dopa-responsive dystonia (the hereditary progressive dystonia with markeddiurnal fluctuation) in China. Method The clinical data, laboratory investigations and treatmentof seven patients from five families with dopa-responsive dystonia were described indetails. Results Of seven patients with dopa-responsive dystonia, one was male andsix were female, with four being two sisters. The onset ages ranged from 3 months to 8years (average: 3.1 years). All these patients developed stiffness in the limbs and haddifficulty in their activities. Some were accompanied by tremors in their extremities,dysarthria and dysphagia. All patients had marked diurnal fluctuation of their symptoms,characterized by aggravation towards the evenings and alleviation in the mornings aftersleep. Lead-pipe or cogwheel rigidity of the limb muscles could be found in all cases,more notable in the left limbs. Investigations such as brain CT 、 MRI 、 SPECT scans and neuroelectrophysiological examinations did not showany abnormalities. Levodopa had significant effect on the improvement of their symptoms ofall these patients. The average levodopa dosage of madopar or simenet CR was 84.8 mg perday. Conclusions Dopa-responsive dystonia is a rare hereditary movement disorder.The diagnosis of the disease is not too difficult if correct understanding of the featuresof the disorder can be kept in mind and proper importance attached to them. With the goodresponse to levodopa, early treatment would be highly recommended.
【 Keywords 】 Dystonia Levodopa
多巴反应性肌张力障碍(DRD) ......
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