神经元蜡样脂褐质沉积症5型

定义 英文原文（暂无中文）

A rare neuronal ceroid lipofuscinosis characterized by developmental and motor delay/regression, psychomotor and cognitive regression, seizures, ataxia, and visual impairment. It may present classically with late infantile-onset, however juvenile or adult-onset has been also described. Patients with late infantile onset have early language and learning impairment whereas loss of vision and seizures appear later. In juvenile onset patients, disease may progress rapidly (not commonly observed); notably vision loss and inability to walk is usually occur within 1 year of the initiation of the symptoms. Seizures can be absent. In the adult onset patients first symptoms become evident around 20 years of age.

别名

NCL5、Neuronal ceroid lipofuscinosis type 5

基本事实

发病年龄

婴儿期

患病率

<1 / 1 000 000

外部标识与链接