X连锁脊髓小脑共济失调3型

定义 英文原文（暂无中文）

X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.

别名

X-连锁共济失调-听力丧失综合征

基本事实

遗传方式

X 连锁隐性

发病年龄

儿童期

患病率

<1 / 1 000 000

临床表型 6

外部标识与链接