The Impact of a Late Diagnosis: A Case of Charcot-Marie-Tooth Type 1.

Autores da FMUP

• Rui Manuel Lopes Nunes

  Autor

Participantes de fora da FMUP

• Albuquerque F
• Cunha D
• Rodrigues AC
• Fernandes FG
• Pipa T
• Marques A
• Moreira C

Unidades de investigação

• Laboratório Associado RISE- Rede de Investigação em Saúde

  

  Investigador

  Fernando Carlos De Landér Schmitt

• Medicina da Comunidade, Informação e Decisão em Saúde

• RISE-Health

  

  Investigador

  Fernando Carlos De Landér Schmitt

Abstract

Charcot-Marie-Tooth (CMT) is a hereditary motor and sensory neuropathy. The disease consists of a spectrum of inherited disorders caused by pathogenic variants in genes, which lead to multiple different clinical phenotypes. It is one of the most common inherited neuromuscular disorders. This disease most commonly presents with symptoms of distal weakness and muscular atrophy, which then lead to foot drop and pés cavus. In this article, we describe the case of a patient who developed muscle atrophy and distal weakness over the course of his 52 years of life, leading to gait impairment and foot deformities. Subsequent investigation led to the acknowledgment of chronic axonal sensorimotor polyneuropathy and genetic identification of the disease's genotype, CMT type 1.?.

Copyright © 2023, Albuquerque et al.

Keywords

• charcot-marie-tooth; congenital; demyelinating diseases; gene expression; genetic mutation; neurology; pés cavus; sensorimotor neuropathy