{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T13:20:47Z","timestamp":1790256047714,"version":"4.1.0"},"reference-count":74,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T00:00:00Z","timestamp":1765929600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003141","name":"CONACYT","doi-asserted-by":"publisher","award":["CB-2015-01-258043"],"award-info":[{"award-number":["CB-2015-01-258043"]}],"id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007774","name":"ICyTD","doi-asserted-by":"publisher","award":["PIFUTP08-164"],"award-info":[{"award-number":["PIFUTP08-164"]}],"id":[{"id":"10.13039\/100007774","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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\u2019s 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.<\/jats:p>","DOI":"10.3390\/genes16121515","type":"journal-article","created":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T15:53:46Z","timestamp":1765986826000},"page":"1515","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Fifteen Years of Myotonic Dystrophy Type 1 in Mexico: Clinical, Molecular, and Socioeconomic Insights from a National Reference Cohort"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-4413-3096","authenticated-orcid":false,"given":"C\u00e9sar M.","family":"Cerecedo-Zapata","sequence":"first","affiliation":[{"name":"Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute (INR-LGII), Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Araceli","family":"Guerra-Grajeda","sequence":"additional","affiliation":[{"name":"Hospital Epidemiological Surveillance Unit, National Rehabilitation Institute (INR-LGII), Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luz C.","family":"M\u00e1rquez-Quir\u00f3z","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute (INR-LGII), Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Arciga-Portela","sequence":"additional","affiliation":[{"name":"Department of Bioengineering, School of Engineering and Sciences, Tecnologico de Monterrey, Campus Ciudad de M\u00e9xico, Mexico City 14380, Mexico"},{"name":"School of Medicine and Health Sciences, Tecnologico de Monterrey, Monterrey 64700, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5252-3140","authenticated-orcid":false,"given":"Rosa E.","family":"Escobar-Cedillo","sequence":"additional","affiliation":[{"name":"Department of Muscular Dystrophy and Electrophysiology, National Rehabilitation Institute (INR-LGII), Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0301-9121","authenticated-orcid":false,"given":"Guadalupe E.","family":"Jim\u00e9nez-Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute (INR-LGII), Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6977-1829","authenticated-orcid":false,"given":"\u00d3scar A.","family":"P\u00e9rez-M\u00e9ndez","sequence":"additional","affiliation":[{"name":"Department of Bioengineering, School of Engineering and Sciences, Tecnologico de Monterrey, Campus Ciudad de M\u00e9xico, Mexico City 14380, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge S.","family":"Velasco-Flores","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute (INR-LGII), Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blanca A.","family":"Barredo-Prieto","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute (INR-LGII), Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1665-8873","authenticated-orcid":false,"given":"Norberto","family":"Leyva-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute (INR-LGII), Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2802-1201","authenticated-orcid":false,"given":"Bulmaro","family":"Cisneros","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology, Center of Research and Advanced Studies-National Polytechnic Institute (CINVESTAV-IPN), Mexico City 07360, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1142-7917","authenticated-orcid":false,"given":"Nadia M.","family":"Murillo-Melo","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute (INR-LGII), Mexico City 14389, Mexico"},{"name":"Department of Bioengineering, School of Engineering and Sciences, Tecnologico de Monterrey, Campus Ciudad de M\u00e9xico, Mexico City 14380, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4399-4618","authenticated-orcid":false,"given":"Jonathan J.","family":"Maga\u00f1a","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute (INR-LGII), Mexico City 14389, Mexico"},{"name":"Department of Bioengineering, School of Engineering and Sciences, Tecnologico de Monterrey, Campus Ciudad de M\u00e9xico, Mexico City 14380, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,12,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/j.ncl.2014.04.011","article-title":"Myotonic Dystrophy","volume":"32","author":"Thornton","year":"2014","journal-title":"Neurol. 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