肯尼迪病是肯尼迪的疾病
Helen Devine1,2, Matthew Solomons1, Luca Zampedri1
1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Practical neurology
|March 14, 2024
概括
一名被误诊为运动神经元疾病的男子经历了重大的生活变化. 基因检测揭示了肯尼迪病,这是一种罕见的疾病,可能比以前认为的更常见.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
背景情况:
- 肯尼迪病 (脊柱和腹筋肌肉缩) 是一种罕见的遗传性神经退行性疾病.
- 早期的症状可能是非特异性的,导致诊断挑战.
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