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来自印度的肯尼迪病:一个具有多系统表现的印度队列

Saranya B Gomathy¹, William L Macken^2,3, Nimita Rani⁴

¹Department of Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

Journal of neuromuscular diseases

|May 5, 2025

概括

肯尼迪·肯尼迪·肯尼迪 (Kennedy) 是一个

科学领域:

神经学神经学
遗传学遗传学是一个
罕见疾病罕见疾病

背景情况:

肯尼迪病 (KD) 是一种罕见的,渐进的下部运动神经元综合征,影响成年男性.
关于印度次大陆KD患者的临床和遗传特征的数据有限.

研究的目的:

综合描述印度KD患者的临床,电生理学,代谢和遗传特征.
为了将印度KD队列的表型与现有的全球数据进行比较.

主要方法:

对10名基因确诊肯尼迪病患者的回顾性审查.
临床表现分析,电生理学,代谢资料和遗传测试 (CAG重复长度).

主要成果:

队列的平均年龄为47岁,症状发作大约在41岁左右.
常见的症状包括靠近四肢的软弱,腹筋征兆,妇联,以及面部/舌头结.
电生理学表明,在一些和前角细胞疾病中的所有感官神经病变. 代谢异常和肌酸激酶的升高是常见的. 基因测试显示,CAG重复的中位数为46次.

结论:

这项研究介绍了来自印度的肯尼迪病患者的最大系列,突出了显著的多系统性参与.
观察到的表型与全球KD数据保持一致,这表明在祖先之间保留了疾病机制.

关键词:

在 CAG 中,重复重复.这是肯尼迪病.多系统参与多系统参与

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