多巴反应性肌张力障碍(DRD)和DRDplus是多巴胺途径的疾病,具有相当大的遗传多样性和无数的表现。DRD在儿童期或青春期出现局灶性肌张力障碍,通常影响下肢,随着症状的晚上恶化和明显的睡眠益处的昼夜波动。DRD“加”具有“非典型特征”,包括婴儿发作,精神运动延迟,认知异常,眼病危机,癫痫发作,烦躁,痉挛,低张力,上睑下垂,热疗和小脑功能障碍。神经变性,然而,不是DRD或DRD-plus障碍的特征。四氢生物蝶呤(BH4),一个关键的辅助因子,缺乏导致多巴胺和5-羟色胺合成不足。去甲肾上腺素缺乏可能共存,取决于酶的缺陷。高苯丙氨酸血症(HPA)是BH4缺乏的线索。然而,在常染色体显性三磷酸鸟苷环水解酶1缺乏症和墨蝶呤还原酶缺乏症中,HPA明显缺失。DRD外观相似是一组涉及黑质纹状体多巴胺能系统的神经退行性疾病,可能出现对多巴胺能药物有反应的肌张力障碍或神经退行性或非神经退行性疾病,而不涉及黑质纹状体多巴胺能系统,但对左旋多巴有反应。虽然左旋多巴是治疗的主要药物,在DRDplus和DRD外观相似和尝试其他药物中,对该药物的反应可能不令人满意。同时管理HPA可显著改善运动和认知功能。这篇综述的目的是帮助神经科医生治疗DRD患者,DRD-plus和DRD看起来很相似,因为他们中的许多人在适当的治疗下都有很好的结果。
Dopa-responsive dystonia (DRD) and DRD plus are diseases of the dopamine pathway with sizeable genetic diversity and myriad presentations. DRD has onset in childhood or adolescence with focal dystonia, commonly affecting lower limb, diurnal fluctuations with evening worsening of symptoms and a demonstrable sleep benefit. DRD \"plus\" has \"atypical features\" which include infantile onset, psychomotor delay, cognitive abnormalities, oculogyric crisis, seizures, irritability, spasticity, hypotonia, ptosis, hyperthermia and cerebellar dysfunction. Neurodegeneration, however, is not a feature of either DRD or DRD-plus disorders. Tetrahydrobiopterin (BH4), a key cofactor, deficiency leads to inadequate dopamine and serotonin synthesis. Norepinephrine deficiency may coexist, depending on the enzyme defect. Hyperphenylalaninemia (HPA) is a clue for BH4 paucity. However, HPA is conspicuously absent in autosomal-dominant guanosine triphosphate cyclohydrolase 1 deficiency and sepiapterin reductase deficiency. DRD look-alike is a group of neurodegenerative disorders involving the nigrostriatal dopaminergic system, which could present with dystonia responsive to dopaminergic drugs or neurodegenerative or non-neurodegenerative disorders without involving the nigrostriatal dopaminergic system yet responsive to levodopa. Although levodopa is the mainstay of therapy, response to this drug can be unsatisfactory in DRD plus and DRD look-alike and other drugs are tried. Simultaneous management of HPA leads to remarkable improvement in both motor and cognitive functions. The aim of this
review is to help neurology practitioners in treating patients with DRD, DRD-plus and DRD look-alike as many of them have excellent outcome with appropriate therapy.