神经元蜡样脂褐质沉积症8型

定义 英文原文（暂无中文）

A rare neuronal ceroid lipofuscinosis characterized classically by late infantile-onset (5-10 years) with rapid disease progression, myoclonus, visual loss and progressive intellectual disability (commonly observed within 2-5 years of seizure onset). Spasticity, dystonic posturing, tremors, and other extrapyramidal signs are also reported in these patients. Less frequently, the disease can manifest with intractable tonic-clonic or complex partial seizures without myoclonous, progressive intellectual disability and variable visual deficit, blindness being infrequent. This condition, also known as Northern epilepsy, is milder and slow progressing compared to the classical form of the disease.

别名

NCL8、Neuronal ceroid lipofuscinosis type 8

基本事实

遗传方式

常染色体隐性

发病年龄

婴儿期

患病率

<1 / 1 000 000

外部标识与链接