论文部分内容阅读
Friedreich共济失调(FA)是最常见的脊髓小脑变性的遗传性共济失调症,多有家族史。表现有步态和肢体的进行性共济失调,下肢反射消失,构音障碍,位置觉和震动党受损等。本组报告6例,与上述特点相符,但发病年龄偏小(平均3.3a),心脏改变不突出,与国外多数报告有异。目前FA研究已进入基因诊断阶段,以往临床表现不典型病例已能用基因突变解释。
Friedreich’s ataxia (FA) is the most common inherited ataxia of spinocerebellar degeneration with many family history. The performance of gait and limb progressive ataxia, lower extremity reflex disappeared, dysarthria, position perception and vibration party damage. The group reported 6 cases, consistent with the above characteristics, but the age of onset is small (average 3.3a), cardiac changes are not prominent, with most foreign reports are different. FA research has now entered the genetic diagnosis stage, the past clinical manifestations of atypical cases have been able to explain gene mutations.