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Charcot-Marie-Tooth disease

Disease Progression in Brazilian Children and Adolescents with Charcot-Marie-Tooth Disease

Strategic Insights

— 1 min read

Brazilian pediatric and adolescent populations with Charcot-Marie-Tooth disease (CMT) experience significant disease progression within 2 years, with measurable deterioration observed as early as 1 year. The total score on the Charcot-Marie-Tooth Pediatric Scale (CMTPedS) increased by 4.5 points throughout 2 years, indicating disease progression. Financial supporters for this research include the Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) and the Swedish Research Council.

Key Takeaways:

  • The study evaluated the natural disease progression in Brazilian children and adolescents with CMT using the CMTPedS over a 2-year period.
  • Significant increases in height, weight, and body mass index (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.
  • 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.
  • 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.
  • The study included 30 participants of both sexes with a mean age of 11.1 +/- 3.2 years.
  • The study was conducted through 3 evaluations, spaced 1 year apart, in children and adolescents aged 5 to 18 years with a confirmed CMT diagnosis.

Statistics:

  • Mean age of participants: 11.1 +/- 3.2 years
  • Total score on CMTPedS increased by 4.5 points throughout 2 years
  • Average annual progression in the CMT1A subgroup: 2 points
  • Average annual deterioration in overall CMT group: 2.25 points
  • Significant decline in pinprick sensation score in overall CMT group: 1 year
  • Increased BMI in participants: 4.5 points throughout 2 years

Sources:

  • Longitudinal Assessment of Natural Disease Progression In Brazilian Children and Adolescents With Charcot-marie-tooth Disease. Arquivos de Neuro-Psiquiatria, 2025;83(08):001-008
  • NewsRx. Studies from University of Sao Paulo Update Current Data on Tooth Diseases and Conditions (Longitudinal Assessment of Natural Disease Progression In Brazilian Children and Adolescents With Charcot-marie-tooth Disease). Health & Medicine Week. October 24, 2025; p 695

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