多巴反应性肌张力障碍七例报告

Dopa responsive dystonia of seven cases

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。

Objective To attach importance to the recognization of dopa responsive dystonia (the hereditary progressive dystonia with marked diurnal fluctuation) in China. Method The clinical data, laboratory investigations and treatment of seven patients from five families with dopa responsive dystonia were described in details. Results Of seven patients with dopa responsive dystonia, one was male and six were female, with four being two sisters. The onset ages ranged from 3 months to 8 years (average: 3.1 years). All these patients developed stiffness in the limbs and had difficulty 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 after sleep. 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 show any abnormalities. Levodopa had significant effect on the improvement of their symptoms of all these patients. The average levodopa dosage of madopar or simenet CR was 84 8 mg per day. Conclusions Dopa responsive dystonia is a rare hereditary movement disorder. The diagnosis of the disease is not too difficult if correct understanding of the features of the disorder can be kept in mind and proper importance attached to them. With the good response to levodopa, early treatment would be highly recommended.