Gemignani综合征

定义 英文原文（暂无中文）

Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.

别名

脊髓小脑共济失调-肌萎缩-听力损失综合征

基本事实

遗传方式

常染色体隐性

发病年龄

成年期

患病率

<1 / 1 000 000

临床表型 13

外部标识与链接