多巴敏感性肌张力障碍一家三例报告

Report of three cases of dopa-responsive dystonia in one family

目的 :认识多巴敏感性肌张力障碍的临床特征 ,以期早期诊治。方法 :描述我院发现的一家 3例患者的临床表现、实验室检查及治疗效果。结果 :男 2例 ,女 1例 ,系同代兄妹。可记忆发病年龄在 10岁左右 ,隐袭发病 ,缓慢进展 ,均以语速变快 ,肢体僵硬 ,不自主运动等锥体外系表现为特征 ,症状白天有波动。体检 3例均有肌张力铅管样增高 ,腱反射活跃 ,2例有畸形足。 3例均无 Babinski征。辅助检查头颅 CT、MRI、血清肌酶谱、神经电生理等均正常。给予美多巴 0 .12 5～ 0 .3 75 g/ d治疗均有显著疗效。使用最长者达 3 0年 (早期用左旋多巴 ) ,未见不良反应。结论 :多巴敏感性肌张力障碍发病率低、但有特征表现 。

Objective: To study the clinical characteristics of dopa responsive dystonia (DRD),providing data for earlier diagnosis and treatment. Methods: Three cases of DRD patients from the same family were studied through their clinical data, laboratory investigations and therapeutic effects. Results: Two males and one female were the same generation. The age of onset remembered was about 10 years. The symptoms were insidiously progressive. Clinical features were extrapyramidal presentations such as fast words speed, limbs stiffness and involuntary movements. All 3 patients had leadtube muscle rigidity, exaggerated tendon reflexes; Two patients had feet deformity. Babinski signs were absent.CT, MRI, serum muscular enzymes and EMG, etc . were normal. Madopa,0.125 0.375 g, daily was effective with the longest treatment period for nearly 30 years and no obvious side effects found. Conclusion: The incidence of DRD is rare with specific presentations, early diagnosis and treatment may achieve better results.