Enfermedad de Charcot- Marie- Tooth: 5 nuevos casos en el sur colombiano

Maria Camila Gutierrez Vargas; Henry  Ostos Alfonso

doi:10.31260/RepertMedCir.01217372.1527

Charcot- Marie- Tooth disease: 5 new cases in southern Colombia

Enfermedad de Charcot- Marie- Tooth: 5 nuevos casos en el sur colombiano

Published 2025-07-30

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Vol. 34 No. 3 (2025): septiembre -diciembre

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Case Reports

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Gutierrez Vargas, M. C., & Ostos Alfonso, H. . (2025). Charcot- Marie- Tooth disease: 5 new cases in southern Colombia. Journal of Medicine and Surgery Repertoire, 34(3), 304-308. https://doi.org/10.31260/RepertMedCir.01217372.1527

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https://doi.org/10.31260/RepertMedCir.01217372.1527

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Maria Camila Gutierrez Vargas

South Colombian University

Roles:

Writing – review & editing

https://orcid.org/0000-0002-9816-8682

Henry Ostos Alfonso

Hospital Universitario de Neiva

Roles:

Writing – review & editing

https://orcid.org/0009-0000-2045-0867

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Henry Ostos Alfonso,

Doctor. Master in genetics. University teacher.

CvLac: https://scienti.minciencias.gov.co/cvlac/visualizador/generarCurriculoCv.do?cod_rh=0000175099

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Charcot-Marie-Tooth disease

hereditary sensory - motor neuropathy

PMP22

MPZ

DNM2

DYNC1H1

Introduction: Charcot-Marie-Tooth disease is the most frequent hereditary peripheral neuropathy, with a global prevalence of 1:2500. It features an heterogenous clinical and genetic presentation, characterized by a progressive sensory-motor polyneuropathy. Case report: 5 patients with molecular diagnosis by next-generation whole-exome sequencing (NGS) of 4 genes (DYNC1H1, DNM2, PMP22 and MPZ). The clinical and electro myographic features associated with Charcot-Marie-Tooth, are described. One patient had a coagulation disorder associated with a mutation in the DNM2 gene. Discussion and conclusion: the diverse and heterogenous spectrum of this group of hereditary sensory-motor neuropathies makes its clinical and genetic characterization difficult, despite being the most prevalent genetic neuropathy. Further studies are required to establish diagnostic certainty and contribute to the development of new therapies to improve patient quality of life.

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Klein CJ. Charcot-Marie-Tooth disease and other hereditary neuropathies. Continuum (Minneap Minn). 2020;26(5):1224–1256. https://doi.org/10.1212/CON.0000000000000927.
Martin AM, Maradei SJ, Velasco HM. Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family. Colomb Med. 2015;46(4):194–8. https://doi.org/10.25100/cm.v46i4.1899.
Marín Niño JE, Rosselli Cock P. Subluxación de cadera, primera manifestación clínica en un niño con enfermedad de Charcot Marie Tooth. Rev Colomb Ortop Tra. 2005;19(4):67–69.
Castro T, Ospina S, Rivera C, Torralvo G, Mateus H. Nuevo caso de asociación entre Charcot-Marie- Tooth y enfermedad de Scheuermann. Iatreia. 2010;23(4-S):S-65. https://doi.org/10.17533/udea.iatreia.8204.
Morena J, Gupta A, Hoyle JC. Charcot-Marie-Tooth: From Molecules to Therapy. Int J Mol Sci. 2019;20(14):3419. https://doi.org/10.3390/ijms20143419.
McCray BA, Scherer SS. Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities. Neurotherapeutics. 2021;18(4):2269-2285. https://doi.org/10.1007/s13311-021-01099-2.
Fontés M. Charcot Marie Tooth Disease. A Single Disorder? Int J Mol Sci. 2018;19(12):3807. https://doi.org/10.3390/ijms19123807.
Volodarsky M, Kerkhof J, Stuart A, Levy M, Brady LI, Tarnopolsky M, et al. Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients. J Med Genet. 2021;58(4):284–8. https://doi.org/10.1136/jmedgenet-2019-106641.
Zhao M, Maani N, Dowling JJ. Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease. Neurotherapeutics. 2018;15(4):966–75. https://doi.org/10.1007/s13311-018-00686-0.
Lopergolo D, Bocci S, Pinto AM, Valentino F, Doddato G, Ginanneschi F, et al. A new mutation in DNM2 gene in a large Italian family. Neurol Sci. 202142(6):2509–13. https://doi.org/10.1007/s10072-020-04972-8.
Amabile S, Jeffries L, McGrath JM, Ji W, Spencer-Manzon M, Zhang H, et al. DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. Am J Med Genet A. 2020;182(9):2049–2057. https://doi.org/10.1002/ajmg.a.61729.
Yang H, Gong P, Jiao X, Niu Y, Zhou Q, Zhang Y, et al. De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms. Front Neurol. 2021;12:733178. https://doi.org/10.3389/fneur.2021.733178.
Hao X, Li C, Lv Y, Zhou T, Tian H, Ma Y, et al. MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease. Mol Genet Genomic Med. 2022;10(4):e1890. https://doi.org/10.1002/mgg3.1890.
Boutary S, Echaniz-Laguna A, Adams D, Loisel-Duwattez J, Schumacher M, Massaad C, et al. Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future. Transl Res. 2021;227:100–11. https://doi.org/10.1016/j.trsl.2020.07.006.
Nagappa M, Sharma S, Govindaraj P, Chickabasaviah YT, Siram R, Shroti A, et al. PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India. J Mol Neurosci. 2020;70(5):778–789. https://doi.org/10.1007/s12031-020-01488-w.
Tassin TC, Barylko B, Hedde PN, Chen Y, Binns DD, James NG, et al. Gain-of-Function Properties of a Dynamin 2 Mutant Implicated in Charcot-Marie-Tooth Disease. Front Cell Neurosci. 2021;15:745940. https://doi.org/10.3389/fncel.2021.745940.