Neural amyotrophy of Charcot-Marie-Tooth (clinical case)

M.A. Trishchynska, V.M. Dubynetska
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Abstract

The article describes the prevalence of inherited neuromuscular disease, specifically neural amyotrophy, or Charcot-Marie-Tooth disease, its key clinical and neurological features, promising blood biomarkers for future diagnosis and therapeutic strategy assessment, along with current treatment methods under investigation, taking into account gene therapy. A clinical case is presented describing Charcot-Marie-Tooth disease type IA in a young man, which was confirmed by molecular genetic testing. The study of diagnostic criteria for nosologies of this spectrum is relevant, taking into account the rarity of the disease and certain difficulties in making a diagnosis.
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腓骨肌萎缩症(临床一例)
本文描述了遗传性神经肌肉疾病的患病率,特别是神经性肌萎缩症或腓骨肌萎缩症,其关键的临床和神经学特征,未来诊断和治疗策略评估的有希望的血液生物标志物,以及目前正在研究的治疗方法,考虑到基因治疗。一个临床病例描述了一名年轻男子夏-玛丽-图斯病IA型,这是由分子基因检测证实。考虑到该疾病的罕见性和诊断的某些困难,对该谱系的诊断标准进行研究是相关的。
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