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CC BY 4.0 · Arq Neuropsiquiatr 2023; 81(10): 913-921
DOI: 10.1055/s-0043-1770348
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Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives

Doença de Charcot-Marie-Tooth: dos marcos históricos no Brasil até as perspectivas atuais de cuidado
Eduardo Boiteux Uchôa Cavalcanti 
1   Rede SARAH de Hospitais de Reabilitação, Unidade Lago Norte, Ambulatório de Doenças Neuromusculares, Brasília DF, Brazil.
,
Rita de Cássia Carvalho Leal 
2   Berenstein Medicina Diagnóstica, Recife PE, Brazil.
,
Wilson Marques Junior 
3   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurologia, Ribeirão Preto SP, Brazil.
,
Osvaldo José Moreira do Nascimento 
4   Universidade Federal Fluminense, Faculdade de Medicina, Serviço de Neurologia, Niterói RJ, Brazil.
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Abstract

Hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease (CMT), traditionally refers to a group of genetic disorders in which neuropathy is the main or sole feature. Its prevalence varies according to different populations studied, with an estimate between 1:2,500 to 1:10,000. Since the identification of PMP22 gene duplication on chromosome 17 by Vance et al., in 1989, more than 100 genes have been related to this group of disorders, and we have seen advances in the care of patients, with identification of associated conditions and better supportive treatments, including clinical and surgical interventions. Also, with discoveries in the field of genetics, including RNA interference and gene editing techniques, new treatment perspectives begin to emerge. In the present work, we report the most import landmarks regarding CMT research in Brazil and provide a comprehensive review on topics such as frequency of different genes associated with CMT in our population, prevalence of pain, impact on pregnancy, respiratory features, and development of new therapies.

Resumo

A neuropatia sensitivo-motora hereditária, também conhecida como doença de Charcot-Marie-Tooth (CMT), tradicionalmente se refere a um grupo de doenças genéticas em que a neuropatia é a principal ou única manifestação. Sua prevalência varia de acordo com as diferentes populações estudadas, com estimativa entre 1:2.500 a 1:10.000. Desde a identificação da duplicação do gene PMP22 no cromossomo 17, por Vance et al., em 1989, mais de 100 genes foram relacionados a esse grupo de doenças e temos visto avanços no atendimento aos pacientes, com identificação de condições associadas e melhores tratamentos de suporte, incluindo intervenções clínicas e cirúrgicas. Além disso, com as descobertas no campo da genética, incluindo técnicas de interferência de RNA e de edição genética, novas perspectivas de tratamento começaram a surgir. No presente trabalho, relatamos os marcos mais importantes sobre a pesquisa de CMT no Brasil e fornecemos uma revisão abrangente sobre tópicos como frequência de diferentes genes associados à CMT em nossa população, prevalência de dor, impacto na gravidez, alterações respiratórias e desenvolvimento de novas terapias.

Keywords

Charcot-Marie-Tooth disease - Hereditary Sensory and Motor Neuropathy - Peripheral Nervous System diseases

Palavras-chave

Doença de Charcot-Marie-Tooth - Neuropatia Hereditária Motora e Sensorial - Doenças do Sistema Nervoso Periférico

Authors' Contributions

EBUC: conceptualization, data collection, writing of the original manuscript; RCCL: conceptualization, data collection, critical review; WMJ: conceptualization, supervision, critical review; OJMN: conceptualization, supervision, critical review, project administration.




Publication History

Received: 30 October 2022

Accepted: 16 March 2023

Article published online:
23 August 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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