在ANKRD11-关联KBG综合征中出现震主导的运动障碍
Antonia M Stehr1, Thomas Koeglsperger2,3, Maureen Jacob1
1Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.
Tremor and other hyperkinetic movements (New York, N.Y.)
|September 30, 2024
概括
KBG综合征是一种来自ANKRD11变异的遗传性疾病,可以表现为运动障碍,如震和动力不良. 这一案例凸显了在震综合征中考虑ANKRD11的重要性.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 克布格综合征是一种罕见的单一性疾病.
- 它是由ANKRD11基因中的致病变体引起的.
- 这种综合征的典型特征是面异常和发育迟缓.
研究的目的:
- 报告KBG综合征的病例与突出的运动障碍.
- 扩大对KBG综合征临床谱的理解.
- 强调ANKRD11变体在震综合征中的作用.
主要方法:
- 一个24岁的患者的病例报告.
- 基因分析确定了一个新的ANKRD11框架转移变异.
- 临床表型,包括神经学检查.
主要成果:
- 这位患者呈现出一种渐进的震主导运动障碍.
- 症状包括休息,意图和姿势震,语音震,头部/舌头震,肌肉度增加和动力衰竭.
- 该患者还在病史中患有轻度发育迟缓和.
结论:
- 运动障碍,特别是震,是KBG综合征的一个显著的临床表现.
- 在联合综合征的差异诊断中,应考虑ANKRD11病原变异.
- 这一案例增加了证据,表明KBG综合征的表型比以前认可的更广泛.
关键词:
在 ANKRD1111 里面.在KBG综合征中,综合震综合征 (CTS) 是一种,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,更多相关视频
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