多巴反应性肌张力障碍(DRD)是一种临床综合征，其特征为儿童期出现的对低剂量左旋多巴有显著且持续反应的肌张力障碍。多巴胺合成通路中任何一个环节的缺失均能导致该病。n TH基因突变引起的DRD呈常染色体隐性遗传，并引起酪氨酸羟化酶(TH)合成减少，从而导致广泛性的多巴胺及儿茶酚胺缺乏。但TH缺乏的DRD(TH-DRD)患者临床表现可不典型，轻症患者以肌张力不全为主要表现，可逐渐发展为痉挛性截瘫，可伴有帕金森样表现，多数对左旋多巴反应良好，重症患者则表现为进行性复杂性婴儿脑病，对左旋多巴反应差，且多遗留智力发育问题。多数患者脑脊液中的高香草酸(HVA)下降。但由于该病临床表现不具有特征性，实验室检查也无特异性，故目前基因检测仍是诊断该病的唯一可靠标准。小剂量左旋多巴对大部分轻症患者疗效肯定，对重症患者也可一定程度上改善症状。n “,”Dopa-responsive dystonia(DRD) is a clinical syndrome characterized by childhood dystonia and dramatic and sustained response to low-dose levodopa.The deficiency of any link in dopamine synthesis pathway can lead to DRD that is caused by n TH gene mutation and is autosomal recessive, which results in the reduction of tyrosine hydroxylase(TH) synthesis and extensive deficiency of dopamine and catecholamine.However, DRD presents atypical clinical manifestations.Mild patients mainly present with dystonia.Some of them might progressively develop into spastic paraplegia and some may have parkinsonian features.Most of them display good response to levodopa.Severe patients present with progressively complex infantile encephalopathy, and badly response to levodopa and remnant intellectual development problems.Most of them manifest with declining homovanillic acid(HVA) in cerebrospinal fluid.However, due to the noncharacteristic clinical course and nonspecific laboratory tests of TH DRD, gene detection still is the only reliable criterion of diagnosis so far.Low-dose levodopa is effective to most mild patients and can improve symptoms to severe patients to some extent.n