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Volume 16
Issue 12
10.3390/genes16121515
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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

Fifteen Years of Myotonic Dystrophy Type 1 in Mexico: Clinical, Molecular, and Socioeconomic Insights from a National Reference Cohort

by
César M. Cerecedo-Zapata
1,†,
Araceli Guerra-Grajeda
2,†,
Luz C. Márquez-Quiróz
1,
Paola Arciga-Portela
3,4,
Rosa E. Escobar-Cedillo
5,
Guadalupe E. Jiménez-Gutiérrez
1,
Óscar A. Pérez-Méndez
3,
Jorge S. Velasco-Flores
1,
Blanca A. Barredo-Prieto
1,
Norberto Leyva-García
1,
Bulmaro Cisneros
6,
Nadia M. Murillo-Melo
1,3,* and
Jonathan J. Magaña
1,3,*
1
Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute (INR-LGII), Mexico City 14389, Mexico
2
Hospital Epidemiological Surveillance Unit, National Rehabilitation Institute (INR-LGII), Mexico City 14389, Mexico
3
Department of Bioengineering, School of Engineering and Sciences, Tecnologico de Monterrey, Campus Ciudad de México, Mexico City 14380, Mexico
4
Postgraduate Degree in Biomedical Sciences, School of Medicine and Health Sciences, Tecnologico de Monterrey, Monterrey 64700, Mexico
5
Department of Muscular Dystrophy and Electrophysiology, National Rehabilitation Institute (INR-LGII), Mexico City 14389, Mexico
6
Department of Genetics and Molecular Biology, Center of Research and Advanced Studies-National Polytechnic Institute (CINVESTAV-IPN), Mexico City 07360, Mexico
*
Authors to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Genes 2025, 16(12), 1515; https://doi.org/10.3390/genes16121515
Submission received: 16 November 2025 / Revised: 12 December 2025 / Accepted: 15 December 2025 / Published: 17 December 2025
(This article belongs to the Special Issue Diagnosis, Management and Therapy of Rare Diseases)
Versions Notes

Abstract

Background/Objectives: Myotonic dystrophy type 1 (DM1) is a rare, multisystemic disorder caused by an expanded (CTG)n repeat in the DMPK gene. Although DM1 has been studied in several populations, access to molecular diagnosis and comprehensive care remains limited in many low- and middle-income countries. This study provides an updated overview of DM1 in Mexico, from diagnostic implementation to patient management, describing key clinical and genetic findings. Methods: We conducted a nationwide, 15-year prospective study at Mexico’s National Reference Center for neuromuscular diseases. A total of 853 individuals at risk were subjected to clinical and molecular evaluation using PCR, TP-PCR, and SP-PCR, encompassing symptomatic, pre-symptomatic, prenatal, and preimplantation genetic diagnosis. Socioeconomic, clinical, and molecular variables were analyzed. Results: A total of 488 individuals were confirmed as DM1 carriers, with the most prevalent phenotypes being classic (36.5%) and juvenile (28.5%). Genomic analysis revealed a correlation between CTG tract sizes and phenotypes. Intriguingly, interrupted CTG repeat tracts were identified in 2.8% of DM1 carriers, who exhibited milder clinical phenotypes and a reduced degree of somatic and intergenerational instability. Survival analysis revealed a reduction in symptom-free survival in patients with larger expansions, while interrupted CTG tracts were associated with delayed onset. Conclusions: The centralization of diagnostic services in Mexico resulted in regional disparities, impacting early diagnosis and family planning. This study highlights the clinical and molecular diversity of DM1 in a Latin American population and underscores the urgent need for decentralized diagnostic services, integrated care models, and tailored prognostic tools in underserved settings.
Keywords: myotonic dystrophy type 1; molecular diagnosis; socio-epidemiologic analysis; CTG repeats; Mexican population myotonic dystrophy type 1; molecular diagnosis; socio-epidemiologic analysis; CTG repeats; Mexican population

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MDPI and ACS Style

Cerecedo-Zapata, C.M.; Guerra-Grajeda, A.; Márquez-Quiróz, L.C.; Arciga-Portela, P.; Escobar-Cedillo, R.E.; Jiménez-Gutiérrez, G.E.; Pérez-Méndez, Ó.A.; Velasco-Flores, J.S.; Barredo-Prieto, B.A.; Leyva-García, N.; et al. Fifteen Years of Myotonic Dystrophy Type 1 in Mexico: Clinical, Molecular, and Socioeconomic Insights from a National Reference Cohort. Genes 2025, 16, 1515. https://doi.org/10.3390/genes16121515

AMA Style

Cerecedo-Zapata CM, Guerra-Grajeda A, Márquez-Quiróz LC, Arciga-Portela P, Escobar-Cedillo RE, Jiménez-Gutiérrez GE, Pérez-Méndez ÓA, Velasco-Flores JS, Barredo-Prieto BA, Leyva-García N, et al. Fifteen Years of Myotonic Dystrophy Type 1 in Mexico: Clinical, Molecular, and Socioeconomic Insights from a National Reference Cohort. Genes. 2025; 16(12):1515. https://doi.org/10.3390/genes16121515

Chicago/Turabian Style

Cerecedo-Zapata, César M., Araceli Guerra-Grajeda, Luz C. Márquez-Quiróz, Paola Arciga-Portela, Rosa E. Escobar-Cedillo, Guadalupe E. Jiménez-Gutiérrez, Óscar A. Pérez-Méndez, Jorge S. Velasco-Flores, Blanca A. Barredo-Prieto, Norberto Leyva-García, and et al. 2025. "Fifteen Years of Myotonic Dystrophy Type 1 in Mexico: Clinical, Molecular, and Socioeconomic Insights from a National Reference Cohort" Genes 16, no. 12: 1515. https://doi.org/10.3390/genes16121515

APA Style

Cerecedo-Zapata, C. M., Guerra-Grajeda, A., Márquez-Quiróz, L. C., Arciga-Portela, P., Escobar-Cedillo, R. E., Jiménez-Gutiérrez, G. E., Pérez-Méndez, Ó. A., Velasco-Flores, J. S., Barredo-Prieto, B. A., Leyva-García, N., Cisneros, B., Murillo-Melo, N. M., & Magaña, J. J. (2025). Fifteen Years of Myotonic Dystrophy Type 1 in Mexico: Clinical, Molecular, and Socioeconomic Insights from a National Reference Cohort. Genes, 16(12), 1515. https://doi.org/10.3390/genes16121515

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