神经元蜡样脂褐质沉积症3型

定义 英文原文（暂无中文）

A rare neuronal ceroid lipofuscinosis characterized by juvenile or protracted juvenile-onset progressive vision loss due to retinal degeneration/retinopathy (which in several patients may precede the onset of neurological symptoms by some years), seizures, progressive cognitive impairment with a precipitous decline to dementia, progressive motor decline with cerebellar, pyramidal and extrapyramidal features. Associated systemic features may include cardiac abnormalities (including conduction abnormalities, ventricular hypertrophy, atrial flutter/fibrillation and symptomatic bradycardia) and autophagic vacuolar myopathy. Seizures in juvenile-onset (also known as the classic form of the disease) patients, develop typically within 2-4 years of the onset of visual deterioration. In protracted form, characterized by combined focal and generalized epilepsy syndrome and progressive neurologic deterioration, seizures and other neurological manifestations appear significantly later compared to classic form and symptoms are milder. This is the most common form of ceroid lipofuscinosis and is widespread across Western countries.

别名

典型青少年神经元蜡样脂褐质沉积症

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