携带X结合的肌管神经病变表现为携带者与中枢神经系统和外周神经系统参与
Yosuke Takeuchi1, Teruaki Masuda1, Noriyuki Kimura1
1Department of Neurology, Faculty of Medicine, Oita University, Japan.
Internal medicine (Tokyo, Japan)
|April 17, 2024
概括
携带者表现为X结合的肌管神经病变 (XLMTM) 可能会表现出超出肌肉软弱的更广泛的症状. 这一案例凸显了监测携带者肌肉和肌肉外症状的重要性.
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:
- 链接到X的肌管肌病 (XLMTM) 是一种罕见的遗传性疾病.
- 在MTM1基因的突变导致XLMTM.
- 异卵性雌性通常是无症状的携带者,但受影响的病例正在出现.
研究的目的:
- 报告一个XLMTM病例在一个列表载体.
- 描述观察到的不常见的肌肉外症状.
- 为了强调XLMTM载体的扩大临床谱.
主要方法:
- 一个XLMTM患者的病例报告.
- 基因分析确定了MTM1.1中的c.206dupG突变.
- 临床检查包括神经学评估.
- 电生理学研究.
- 大脑磁共振成像 (MRI).
主要成果:
- 该患者是MTM1突变的表现载体.
- 她出现了凝视性阴影和认知障碍,除了肌肉虚弱.
- 电生理学和脑MRI证实了中枢和外周神经系统的参与.
结论:
- 表现为XLMTM的载体可以表现出比以前认可的更广泛的临床表型.
- 应考虑肌外症状,包括神经缺陷.
- 对这些患者来说,对肌肉和肌肉外表现的全面随访至关重要.
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