多巴反应性肌张力障碍临床分析

目的回顾性分析多巴反应性肌张力障碍患者的临床特点和治疗原则。方法选择2005年3月-2010年7月门诊或住院治疗且诊断明确的多巴反应性肌张力障碍患者，面对面采集临床资料并门诊或电话随访，对其性别、年龄、发病年龄、家族史、首发症状、就诊症状、诊断延误时间及治疗过程进行分析。结果共21例患者人组，男4例、女17例，平均发病年龄（7．19±3．40）岁，平均诊断延误时间（13．76±11.38）年。均以肢体肌张力障碍为首发症状，20例（95．24％）呈现晨轻暮重现象，6例（28．57％）伴帕金森样症状，2例（9．52％）伴痉挛性截瘫；经小剂量左旋多巴，多巴丝肼治疗后症状显著缓解。随访18例患者，仅1例治疗后仍遗留肢体残疾；3例失访。随访期间左旋多巴／多巴丝肼平均维持剂量（175．35±113．51）mg／d，3例患者辅助应用盐酸苯海索（4.6mg／d）治疗。结论多巴反应性肌张力障碍患者多于儿童期以肢体肌张力障碍发病，小剂量左旋多巴／多巴丝肼治疗效果显著。因此，对于儿童肌张力障碍或青年帕金森样症状患者应行小剂量左旋多巴，多巴丝肼诊断性治疗，以降低多巴反应性肌张力障碍的误诊率。

Clinical characteristics of dopa- responsive dystonia

Objective To assess the clinical features and therapeutic principle of patients with doparesponsive dystonia （DRD）. Methods Patients with DRD from March 2005 to July 2010 in the Department of Neurology, West China Hospital, Sichuan University were studied and followed up by visiting or phone. Results Twenty-one DRD patients with 4 males and 17 females were included in the study. The mean age of onset was （7.19 ± 3.40） years. The mean delayed time was （13.76 ± 11.38） years. Limb dystonia was the initial symptom of all patients. Clinical symptoms of 20 patients （95.24%） presented diurnal fluctuation. Six patients （28.57%） presented parkinsonian symptoms and 2 patients （9.52%） presented spastic paraplegia with the development of disease. All patients had a good respons to low dose of levodopa. Eighteen patients were followed up, but only one patient had disability due to delayed diagnosis and treatment. The mean maintenance dosage of levodopa was （175.35 ± 113.51） mg/d. There were 3 patients with adjunctive treatment of trihexyphenidyl. Conclusion Limb dystonia occurring at childhood is the initial symptom of patients with DRD. Trying low dose of levodopa treatment for children with dystonia or young patients with parkinsonian symptoms may avoid misdiagnosis.