多巴反应性肌张力障碍

Dopa responsive dystonia

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个家庭患者的临床表现、辅助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、肢体僵硬 ;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天内均有明显疗效 ,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。

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.