We present a case of mild, adult-onset dopa-responsive dystonia (DRD) with a heterozygous mutation in the tyrosine hydroxylase (TH) gene. We propose that this genetic state may have led to partial enzyme deficiency. Future studies should attempt to identify and characterize the phenotype of other patients with single TH variants.

中文翻译：

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杂合酪氨酸羟化酶突变携带者的轻度多巴反应性肌张力障碍：症状性酶缺乏的证据？


我们介绍了一例轻度成人发病的多巴反应性肌张力障碍 (DRD)，其酪氨酸羟化酶 (TH) 基因存在杂合突变。我们认为这种遗传状态可能导致部分酶缺乏。未来的研究应尝试识别和表征其他具有单一 TH 变异的患者的表型。