眼运动失用症Cogan型

定义 英文原文（暂无中文）

Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.

别名

眼运动失用症，Cogan型

基本事实

遗传方式

常染色体隐性

发病年龄

儿童期

患病率

<1 / 1 000 000

临床表型 15

外部标识与链接