ArticleAnnals of neurology2017
Natural history of Charcot-Marie-Tooth disease during childhood.
Article in Annals of neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 citations in OpenAlex.
- Pooled it
- Burden and social context of caregivers of children and adolescents with Charcot-Marie-Tooth disease.Arquivos de neuro-psiquiatria · 2026Article
- Clinical Development of Therapies for Charcot-Marie-Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory Pathways.Journal of the peripheral nervous system : JPNS · 2026Review
- Non-Pharmacological Management of Charcot-Marie-Tooth Disease: A Case Report.Muscles (Basel, Switzerland) · 2026Article
- Functional disease progression in children with inherited peripheral neuropathies: A prospective cohort study.Journal of neuromuscular diseases · 2026Article
- Axonal-demyelinating differences in functional change in pediatric Charcot-Marie-Tooth and related neuropathies.BMC neurology · 2026Article
- Charcot-Marie-Tooth disease and related neuropathies.Nature reviews. Disease primers · 2026Review
- Designing and Implementing a Web-Based Platform for Accurate and Reliable Clinical Outcome Measures and Global Certification for Evaluating Charcot-Marie-Tooth disease.Journal of the peripheral nervous system : JPNS · 2025Article
- On the natural history of Charcot-Marie-Tooth disease in children and adolescents.Arquivos de neuro-psiquiatria · 2025Article
- Longitudinal assessment of natural disease progression in Brazilian children and adolescents with Charcot-Marie-Tooth disease.Arquivos de neuro-psiquiatria · 2025Observational
- Feasibility, Validity, and Reliability of the Virtual CMT Infant Toddler Scale (vCMTInfS): A Remote Evaluation of Infants/Toddlers With CMT.Journal of the peripheral nervous system : JPNS · 2025Article
- Hip Dysplasia in Charcot-Marie-Tooth Disease: Insights From a Large Cohort of Children and Adolescents.Journal of the peripheral nervous system : JPNS · 2025Article
- Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations.Developmental medicine and child neurology · 2025Article
- TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.Brain : a journal of neurology · 2025Article
- Charcot-Marie-Tooth disease in children.Annals of the Child Neurology Society · 2024Review
- Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.Neurology · 2024Article
- A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.Journal of the peripheral nervous system : JPNS · 2024Article
- Use of NaF and FDG PET/CT Scan for the Assessment of Charcot Joint in Charcot-Marie-Tooth Disease: All That Glitters is Gold?Journal of musculoskeletal & neuronal interactions · 2024Article
- Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.Brain : a journal of neurology · 2023Article
- Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease.Neurology · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 8 institutions in 4 countries.
Funding
Abstract
objectiveTo determine the rate of disease progression in a longitudinal natural history study of children with Charcot-Marie-Tooth (CMT) disease.
methodsTwo hundred six (103 female) participants aged 3 to 20 years enrolled in the Inherited Neuropathies Consortium were assessed at baseline and 2 years. Demographic, anthropometric, and diagnostic information were collected. Disease progression was assessed with the CMT Pediatric Scale (CMTPedS), a reliable Rasch-built linearly weighted disability scale evaluating fine and gross motor function, strength, sensation, and balance.
resultsOn average, CMTPedS Total scores progressed at a rate of 2.4 ± 4.9 over 2 years (14% change from baseline; p < 0.001). There was no difference between males and females (mean difference, 0.5; 95% confidence interval [CI], -0.9 to 1.9; p = 0.49). The most responsive CMTPedS items were dorsiflexion strength (z-score change, -0.3; 95% CI, -0.6 to -0.05; p = 0.02), balance (z-score change, -1.0; 95% CI, -1.9 to -0.09; p = 0.03), and long jump (z-score change, -0.4; 95% CI, -0.7 to -0.02; p = 0.04). Of the most common genetic subtypes, 111 participants with CMT1A/PMP22 duplication progressed by 1.8 ± 4.2 (12% change from baseline; p < 0.001), 9 participants with CMT1B/MPZ mutation progressed by 2.2 ± 5.1 (11% change), 6 participants with CMT2A/MFN2 mutation progressed by 6.2 ± 7.9 (23% change), and 7 participants with CMT4C/SH3TC2 mutations progressed by 3.0 ± 4.5 (12% change). Participants with CMT2A progressed faster than CMT1A (mean difference, -4.4; 95% CI, -8.1 to -0.8; p = 0.02). Children with CMT1A progressed consistently through early childhood (3-10 years) and adolescence (11-20 years; mean difference, 1.1; 95% CI, -0.6 to 2.7; p = 0.19), whereas CMT2A appeared to progress faster during early childhood than adolescence (mean difference, 10.0; 95% CI, -2.2 to 22.2; p = 0.08).
interpretationUsing the CMTPedS as an outcome measure of disease severity, children with CMT progress at a significant rate over 2 years. Understanding the rate at which children with CMT deteriorate is essential for adequately powering trials of disease-modifying interventions. Ann Neurol 2017;82:353-359.
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