脊髓性肌萎缩-眼肌麻痹-锥体束征综合征

定义 英文原文（暂无中文）

Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.

别名

Hamano-Tsukamoto 综合征

基本事实

发病年龄

新生儿期

患病率

<1 / 1 000 000

外部标识与链接