神经元蜡样脂褐质沉积症1型

定义 英文原文（暂无中文）

A rare neuronal ceroid lipofuscinosis characterized by developmental delay, psychomotor regression, hypotonia, seizures, ataxia, movement disorders and visual impairment. It may present classically with infantile-onset (6-18 months) however late infantile (18 months-4 years), juvenile (4 years-early adolescence) or adult-onset (mid 20s-mid 30s) have also been described. Disease progression is rapid in both infantile/late infantile onset patients, manifesting with progressive and rapid loss of speech, early cognitive and motor decline, impaired gait function, myoclonus, vision loss (observed bit later in late infantile form) and brain atrophy. Infantile form is characterized by a short lifespan preceeded by a relatively long steady progression following the rapid decline. Disease progression is slow in juvenile-onset and protracted in adult-onset patients. Psychosis in juvenile-onset patients, depression and parkinsonism in adult-onset patients are reported in addition to the common clinical symptoms.

别名

Neuronal ceroid lipofuscinosis type 1、NCL1

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