多巴反应性肌张力失常  

Dopa-responsive dystonia

作　　者：孙斌[1] 蒲传强[1] 吴卫平[1] 戚晓昆[2] 于生元[1] 冯大刚[2] 朱克[1] 

机构地区：[1]中国人民解放军总医院神经内科 [2]中国人民解放军海军总医院神经内科

出　　处：《现代神经疾病杂志》2003年第2期69-72,共4页

摘　　要：目的提高对多巴反应性肌张力失常的认识与重视。方法描述近3年诊治的7例多巴反应性肌张力失常患者的临床表现、辅助检查与治疗结果并进行文献复习。结果7例患者均无家族史,发病年龄为6～29岁,平均(13.43±7.93)岁;其中4例患者诊断前的平均病程为1.5年,余3例患者病程较长,分别为47、25和16年。7例患者均为缓慢起病,表现为四肢发僵,活动困难或伴有肢体震颤、足趾屈曲及足内翻,临床症状晨轻暮重。体格检查发现,四肢肌张力呈强直性或齿轮样增高,双下肢腱反射活跃甚至亢进,4例病理征阳性。血清学、脑脊液、头部CT、MR以及神经电生理等各项辅助检查均于正常范围之内。小剂量多巴制剂对所有患者均有明显疗效,平均服用剂量为105.17mg/d,应用最长者达14年,且无须增加剂量。结论多巴反应性肌张力失常为罕见的遗传性运动障碍疾病,临床表现典型者诊断不难。小剂量多巴制剂有显著且持久的疗效;早期应用安坦、金刚烷胺等药物治疗也有效。应注意与帕金森病鉴别。Objective To deepen the understanding and attention to dopa-responsive dystonia(DRD)[also hereditary progressive dystonia(HPD)or Segawa disease].Methods The clinical manifestations,labo-ratory findings and treatment in seven patients with DRD from different families diagnosed in this hospital dur-ing the recent 3years were analyzed,and the related literatures were reviewed.Results Seven patients with DRD(1male and6female)whose onset ages were6to29years,averaged(13.43±7.93)years.The mean course before diagnosis was1.5years in four cases;and the others had longer course s(25,47and16years respectively).The clinical symptoms in all of the cases were slow onset with stiffness and weakness of ex-tremities,or associated with tremor,toe flexion and talipes varus,and characterized by alleviation in the morn-ing and aggravation in the afternoon or evening.Somatoscopy showed rigid tension or cogwheel rigidity of the limbs,active tendon reflexes or hyperreflexia in both lower extremities in all cases and pathological reflex oc-curring in four cases.Other examinations including serologic test,cerebrospinal fluid,brain CT and MRI,and neuroelectrophysiological examination were all in normal range.There were significant effect on all patients treated with small dose of madopar.The average dosage was105.17mg /d.The longest treatment with madopar had been lasting for14years and the dosage needed not increasing.Conclu sion DRD is a rare hereditary movement disorder.The diagnosis of the disease is not difficult in patients with typical manifes-tions.There is significant and sustained effect on DRD with small dose of dopa preparations,treatment with artane or amantadine is effective in the early course.The attention should be payed in differentiating DRD from Parkinson's disease.[

关 键 词：张力障碍 左旋多巴 遗传性疾病 治疗 诊断 

分 类 号：R746[医药卫生—神经病学与精神病学]