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

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.