[Charcot-Marie-Tooth disease type 1A with late onset]

There is no clear data available on the prevalence of Charcot-Marie-Tooth disease due to wide genetic diversity, the presence of sporadic cases, and the low awareness among specialists of hereditary diseases in adults. Given the diversity of presentation and age of onset, it is important to report Charcot-Marie-Tooth disease cases to identify triggers and progression factors. The article presents a clinical case of Charcot-Marie-Tooth disease type IA in a patient with late-onset disease (49 years of age). The clinical diagnosis was established according to the classical clinical triad, in combination with signs of diffuse symmetrical demyelination, a significant decrease in conduction along the motor fibers of the extremities measured by electroneuromyography, and the identified duplication of the PMP22 gene on chromosome 17p11.2-p12. The paper focuses on the differential diagnosis with chronic inflammatory polyradiculoneuropathy.