常染色体隐性遗传性痉挛性共济失调Charlevoix-Saguenay型的临床测评工具研究进展

Research Progress in Clinical Evaluation Tools of Autosomal Recessive Spastic Ataxia Charlevoix-Saguenay Type

常染色体隐性遗传性痉挛性共济失调Charlevoix-Saguenay型(ARSACS)是一种慢性、进行性神经退行性疾病。ARSACS患者可能出现小脑共济失调、下肢痉挛、构音障碍以及吞咽困难等特征性表现,目前尚无有效的治疗方法,只能对症处理。随着对ARSACS患者临床治疗的探究,各种临床测评工具使用的有效性和可信度不断发展。目前研究主要集中于患者上肢功能、下肢功能、运动和平衡功能、语言功能以及吞咽功能等方面。未来应建立多中心、大样本的纵向研究,增加随访时间和次数,以完善和验证ARSACS临床测评工具。

Autosomal recessive spastic ataxia Charlevoix-Saguenay type(ARSACS)is a chronic,progressive neurodegenerative disorder.Patients with ARSACS may have characteristic manifestations such as cerebellar ataxia,lower limb spasm,dysarthria and dysphagia.Currently,there is no effective treatment,and only symptomatic treatment can be performed.With the exploration of the clinical treatment of ARSACS patients,the effectiveness and reliability of various clinical assessment tools for ARSACS patients are also constantly developing.Current studies mainly focus on upper limb function,lower limb function,motor and balance function,speech function and swallowing function.In future studies,multi-center studies should be established,sample size should be expanded,longitudinal studies should be established,and follow-up time and frequency should be increased,so as to better improve and verify the clinical assessment tools of ARSACS.