多巴反应性肌张力障碍三例报告（附71例文献报道综合分析）

目的加强对多巴反应性肌张力障碍（DRD）的认识和重视。方法回顾性分析南昌市第一医院收治的3例多巴反应肌张力障碍患者和国内文献报道的71例多巴反应肌张力障碍患者的临床表现、辅助检查及治疗情况。结果多巴反应性肌张力障碍发病年龄较早,多见于女性,表现为肌张力障碍或合并帕金森综合征,呈昼间波动,应用左旋多巴治疗有明显疗效。辅助检查：血清学检查、CSF、头颅CT/MRI和神经电生理检查均正常。结论DRD为少见的遗传性运动障碍疾病,大部分在儿童期起病,典型者诊断不难,小剂量多巴制剂有显著、持久疗效,早期用安坦治疗有效。对幼年起病的肌张力障碍或帕金森综合征患者,应首先使用左旋多巴治疗,使患者能够保持正常生活质量。

Report of Three Cases of Dopa-responsive Dystonia (Comprehensive Analyes on Seventy-one Cases of Dopa-responsive Dystonia)

Objective To explore the importance of the recognization of dopa-responsive dystonia（DRD）, the hereditary progressive dystonia with marked diurnal fluctuation. Methods The clinical data, laboratory investigations and treatment of three patients in the First Hospital of Nanchang and 71 cases of patients with DRD from the near five years literature in china were described in details. Results DRD usually occured in the early and in females. The main manifestations included dystonia or complicated with Parkinsonism, diurnal fluctuation, well-response to L-dopa. Investigations such as serologic chemical examinations, brain CT or（and） MRI,CSF and neuroelectrophysiological examinations did not find any abnormalities. Conclusion DRD is a rare hereditary movement disorder. Onset of the patients with DRD is mainly in childhood. 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. DRD should be differentiated from juvenile patients with Parkinsonism. It has a good response and persistence to use the low dose Ldopa. Artane is the effect on the improvement of the symptoms on the early course of DRD. DRD should be primarily treated by L-dopa in childhood when onset of dystonia or Parkinsonism. The patients with such treatment will survival with normal quality of life.