早发进行性脑病伴不定向型肌痉挛

定义 英文原文（暂无中文）

A rare infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. The focal continuous myoclonus (lasting from dozens of minutes to hours) is observed in the first months of life. During disease progression, prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occur and eventually progressive encephalopathy with hypotonia and ataxia is observed. All patients reported to have cortical atrophy. There have been no further descriptions in the literature since 1996.

基本事实

遗传方式

未知

发病年龄

儿童期

患病率

<1 / 1 000 000

外部标识与链接