遗传性共济失调诊断与治疗专家策略

Study on diagnosis and treatment of hereditary ataxia

遗传性共济失调是一大类具有高度临床和遗传异质性、病死率和病残率较高的遗传性神经系统退行性疾病。临床上以小脑共济失调为主要特征,表现为平衡障碍、进行性肢体协调运动障碍、步态不稳、构音障碍、眼球运动障碍等,并可伴有复杂的神经系统损害。本文结合疾病分子分型提出了遗传性共济失调的分子诊断流程。目前此类疾病尚缺乏有效的治疗方法,主要以对症治疗为主。

Hereditary ataxia （HA） is a clinically and genetically heterogeneous group of neurodegenerative disorders with high mortality and morbidity. It is characterized by progressive cerebellar ataxia of gait and limbs variably associated with ophthahnoplegia, pigmentary retinopathy, pyramidal and extrapyramidal signs, dementia and peripheral neuropathy. The molecular diagnosis process is proposed based on molecular classification. So far, symptomatic treatment is the mainly approach, with the lack of effective therapeutic method.