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CC BY 4.0 · Arq Neuropsiquiatr 2025; 83(08): s00451811174
DOI: 10.1055/s-0045-1811174
Original Article

Longitudinal assessment of natural disease progression in Brazilian children and adolescents with Charcot-Marie-Tooth disease

Bruno Alvarenga Soares 
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
,
Camila Fernanda de Freitas 
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
,
Juliana Cardoso 
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
,
Cyntia Rogean de Jesus Alves de Baptista 
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
,
Wilson Marques  Junior
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
,
Ana Claudia Mattiello-Sverzut 
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
› Author Affiliations
Funding The study was financially supported by Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) (process numbers: 2024/06190-0, 2024/13227-8, 22/10786-0 and 2017/17596-4).
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Abstract

Background

Charcot-Marie-Tooth disease (CMT) is a progressive neurological disorder that typically manifests in early childhood. The natural progression of CMT in Brazilian pediatric and adolescent populations remains unknown.

Objective

To evaluate the natural disease progression in Brazilian children and adolescents with CMT using the Charcot-Marie-Tooth Pediatric Scale (CMTPedS).

Methods

A longitudinal observational study was conducted to assess disease progression over a 2-year period through 3 evaluations, spaced 1 year apart, in children and adolescents aged 5 to 18 years with a confirmed CMT diagnosis. Height, weight, body mass index (BMI), fat-free mass, and functionality (assessed via the CMTPedS) were evaluated in each of the three sessions.

Results

We included 30 participants of both sexes with a mean age of 11.1 ± 3.2 years. Significant increases in height, weight, and BMI were observed, alongside a decline in the percentage of lean body mass across evaluations. The total score on the CMTPedS increased by 4.5 points throughout 2 years, indicating disease progression, with notable deterioration in functional dexterity, pinprick and vibration sensations, and gait. Significant progression was evident within 1 year, with an average annual deterioration of 2.25 points. The subgroup with CMT type 1A (CMT1A) presented an increase of 4 points in the total score, corresponding to an average annual progression of 2 points. Unlike the overall CMT group, the CMT1 subgroup did not exhibit a decline in the pinprick sensation score.

Conclusion

Children and adolescents with CMT exhibit significant disease progression within 2 years, with measurable deterioration observed as early as 1 year. The CMTPedS is a reliable tool to monitor CMT progression in this population.

Keywords

Charcot-Marie-Tooth Disease - Functional Status - Disability Evaluation - Child - Adolescent

Authors' Contributions

Conceptualization: BAS; CFF; JC; CRJAB; WMJ; ACMS Data curation: BAS; CFF; JC; CRJAB; ACMS Formal analysis: BAS; CFF; ACMS Funding acquisition: BAS; CFF; JC; CRJAB; ACMS Investigation: BAS; CFF; JC; CRJAB, WMJ; ACMS Methodology: BAS; CFF; ACMS Project administration: BAS; CFF; ACMS Resources: BAS; CFF; JC; CRJAB; WMJ; ACMS Software: BAS; CFF; ACMS Supervision: BAS; ACMS Validation: BAS; CFF; JC; CRJAB; WMJ; ACMS Visualization: BAS; CFF; JC; CRJAB; WMJ; ACMS Writing – original draft: BAS; CFF; ACMS Writing – review & editing: BAS; CFF; JC; CRJAB; WMJ; ACMS.


Data Availability Statement

The data that support the findings of this study are available from the corresponding author upon reasonable request.


Editor-in-Chief: Hélio A. G. Teive (https://orcid.org/0000-0003-2305-1073).


Associate Editor: Francisco de Assis Aquino Gondim (https://orcid.org/0000-0002-8957-5796).




Publication History

Received: 16 March 2025

Accepted: 03 June 2025

Article published online:
20 August 2025

© 2025. 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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Bibliographical Record
Bruno Alvarenga Soares, Camila Fernanda de Freitas, Juliana Cardoso, Cyntia Rogean de Jesus Alves de Baptista, Wilson Marques, Ana Claudia Mattiello-Sverzut. Longitudinal assessment of natural disease progression in Brazilian children and adolescents with Charcot-Marie-Tooth disease. Arq Neuropsiquiatr 2025; 83: s00451811174.
DOI: 10.1055/s-0045-1811174