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原发性肌张力障碍是一种遗传性神经系统疾病,其发病与基因突变有关。其中,DYT1是最常见的突变基因,其结构和致病机制日益明确,这对该病的诊治意义重大。在诊断方面,一些临床表现不典型病例可以通过基因检测而明确诊断,并对病情发展进行预测。在治疗方面,DYT1肌张力障碍的传统治疗(主要包括药物治疗和立体定向手术治疗)均是对症治疗,而且不良反应多,疗效不确切。近年来,掌握DYT1基因的致病机制后提出一种新的治疗策略即基因治疗,这是一种可能彻底治愈此类遗传性疾病的方法,为广大患者的康复带来了希望。
Primary dystonia is a hereditary neurological disorder whose onset is associated with genetic mutations. Among them, DYT1 is the most common mutation gene, its structure and pathogenesis is increasingly clear, which is of great significance for the diagnosis and treatment of the disease. In the diagnosis, some clinical manifestations of atypical cases can be diagnosed by genetic tests and predict the progression of the disease. In the treatment, DYT1 dystonia traditional treatment (including drug treatment and stereotactic surgery) are symptomatic treatment, and adverse reactions, curative effect is not exact. In recent years, mastering the pathogenic mechanism of DYT1 gene proposed a new treatment strategy that is gene therapy, which is a possible cure for such genetic diseases, for the majority of patients with hope for the rehabilitation.