痉挛性共济失调伴先天性瞳孔缩小

定义 英文原文（暂无中文）

Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.

别名

常染色体显性遗传痉挛性共济失调7型

基本事实

遗传方式

常染色体显性

发病年龄

青少年期、儿童期、婴儿期、新生儿期

患病率

<1 / 1 000 000

临床表型 8

外部标识与链接