在具有GFPT1突变的先天性肌痛性综合征的表型变异性
Suresh Babu Vallepu1, Kamakshi Dhamija2, Gurdeep Kumar Rajan1
1Department of Neurology, Govind Ballabh Pant Postgraduate Institute of Medical Education and Research, G B Pant Hospital, Room No: 501, New Delhi, 110002, India.
Acta neurologica Belgica
|November 27, 2024
概括
先天性肌痛综合征 (CMS) 在青少年中可能出现可治疗的遗传原因. 即使没有家族病史,GFPT1突变也应该被考虑为肢体腰带软弱,特别是具有独特特征的积极的ACHR抗体.
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:
- 先天性肌痛综合征 (CMS) 是一组与肌痛严重症不同的遗传性疾病.
- CMS可以在青春期表现出来,并且通常是可以治疗的.
- 基因检测对于诊断CMS,指导治疗以及避免肌肉活检等侵入性手术至关重要.
研究的目的:
- 报告两名患有GFPT1突变的青少年女性,呈现出各种先天性肌痛综合征的表型.
- 突出基因测试在识别可治疗的CMS形式的诊断实用性.
- 强调在肢体腰带软弱的差异诊断中考虑GFPT1突变的重要性.
主要方法:
- 基因分析以确定谷氨酸果糖-6-酸盐转胺酶1 (GFPT1) 突变.
- 临床表型,包括评估肌肉软弱,形特征和关节移动性.
- 对一个患者进行肌肉活检和血清乙胆受体 (AChR) 抗体检测.
主要成果:
- 确定了两名具有特定GFPT1突变 (c.322G>A p.Arg111His) 的青少年女性.
- 一名患者表现出形特征,过度伸展关节,代谢肌病指标和阳性ACHR抗体.
- 第二名患者呈现出先天性四肢腰带肌综合征的经典特征.
结论:
- 描述了一种与GFPT1突变,四肢腰带软弱,异形特征,阳性ACHR抗体和线粒体病理相关的CMS新型表型.
- 与GFPT1突变相关的CMS是一种可治疗的疾病,无论家族病史如何,应考虑青少年肢体腰带软弱.
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