多巴反应性肌张力障碍

目的：探讨多巴反应性肌张力障碍的临床特点及治疗。方法：观察6例来自4个家族患者的临床表现，辅检查及对左旋多巴治疗的反应。结果：1例儿童期、2例少年期起病者，首发症状均为下肢肌张力异常、足跟着地困难；3例青年起病者表现为震颤、本例题硬；3例出现病理征阳性；6例症状均呈晨轻暮重。服用多巴制剂1－6天内有明显疗效，用药最长者（2例）达7年，未增加剂量。结论：该病临床特点较明显，多巴制剂对其有快速、显著、持续的疗效。

Dopa responsive dystonia

Objective　To explore the clinical feature and treatment method of the dopa-responsive dystonia (DRD).Methods　To observe the clinical manifestation,auxiliary test and the response on the treatment of levodopa in 6 patients from 4 families.Results　1 patient for childhood-onset and 2 patients for adolescent-onset with DRD, first symptom showed leg dystonia and toe-walking with difficulty, whereas 3 patients of adult-onset showed tremor and rigidity. Babinski sign was presented in 3 cases. Diurnal fluctuation in symptom severity occurred in all cases. All patients had obvious response to small dose levodopa in 1～6 days. In 2 cases, the effect was maintained for 7 years, without increasing the intake of levodopa.Conclusion The clinical feature of DRD was more remarkable,the therapeutic effectiveness of levodopa was rapid,sustained and obvious.