米约西肌病的晚期呈现:一个病例报告
Ubaid Ansari1, Aakriti Dua2, Esha Aneja3
1Family Medicine, California Northstate University College of Medicine, Elk Grove, USA.
Cureus
|August 11, 2025
概括
米约希肌病是一种遗传性肌肉疾病,会导致逐渐衰弱. 这一案例突出了老年人罕见的晚期发病诊断,强调了诊断方面的挑战.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 肌肉骨系统疾病 肌肉骨系统疾病
背景情况:
- 米约西肌病是一种罕见的自体逆性四肢腰带肌肉发育不良症.
- 它是由DYSF基因的突变引起的,影响肌肉膜修复至关重要的dysferlin蛋白功能.
- 症状包括远部肌肉衰弱和缩,通常在成年早期开始.
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