ORIGINAL RESEARCH article

Front. Genet.

Sec. Genetics of Common and Rare Diseases

Volume 16 - 2025 | doi: 10.3389/fgene.2025.1595423

This article is part of the Research TopicInsights in Genetics of Common and Rare Diseases 2024View all 23 articles

Genetic and Clinical Landscape of Duchenne Muscular Dystrophy in Guatemala: Insights from a National Study

Provisionally accepted
Marcela Elizabeth OrozcoMarcela Elizabeth Orozco1,2*Edgar Ernesto KestlerEdgar Ernesto Kestler3Gerardo RamirezGerardo Ramirez4Gabriel SilvaGabriel Silva5Julio Rafael CabreraJulio Rafael Cabrera6Sofía Alejandra De la VegaSofía Alejandra De la Vega7Ahmad Al KhleifatAhmad Al Khleifat8*
  • 1Neuromuscular and Rare Diseases Unit, Department of Neurology and Neurosciences, Hospital General San Juan de Dios, Guatemala City, Guatemala
  • 2Biomedical Sciences PhD, school of postgraduate studies, Faculty of Medical Siencies, Universidad de San Carlos de Guatemala, Guatemala City, Guatemala
  • 3Centre for Epidemiological Research in Sexual and Reproductive Health, Hospital General ´San Juan de Dios´, Guatemala, Guatemala
  • 4Department of Neurology and Neurosciences, Hospital General ´San Juan de Dios´, Guatemala, Guatemala
  • 5Genetics Unit, Hospital de las Obras Sociales del Hermano Pedro, Antigua Guatemala, Guatemala
  • 6Genetics Unit, Roosevelt Hospital., Guatemala, Guatemala
  • 7. Foundation for the Welfare of the Disabled (FUNDABIEM), Quetzaltenango, Guatemala
  • 8Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, England, United Kingdom

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Duchenne muscular dystrophy (DMD) is a severe X-linked disorder caused by mutations in the DMD gene, with a global prevalence of 3.6 per 100,000 people. Despite its well-documented genetic basis, no previous studies have characterised DMD in Guatemala. We analysed 33 genetically confirmed cases to estimate prevalence, describe the mutation spectrum, and assess clinical features. Prevalence was 0.61 per 100,000 men under 30. Symptoms began before age 5 in 85% of cases, yet 60% were diagnosed after age 6, highlighting significant diagnostic delays. Deletions were the most common mutation (55%), followed by point mutations (30%) and duplications (15%), with two novel variants identified. Most deletions clustered in the exon 45-55 hotspot. Nearly half of the cases were eligible for exon-skipping therapies. These findings reveal genetic heterogeneity in the Guatemalan population, substantial delays in diagnosis, and the need for improved access to genetic testing, targeted treatments, and a national DMD registry.

Keywords: Dystrophin gene, Neuromuscular Disease, X-linked, Molecular variants, Diagnostic challenge, genetic variability

Received: 18 Mar 2025; Accepted: 25 Jun 2025.

Copyright: © 2025 Orozco, Kestler, Ramirez, Silva, Cabrera, De la Vega and Al Khleifat. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence:
Marcela Elizabeth Orozco, Neuromuscular and Rare Diseases Unit, Department of Neurology and Neurosciences, Hospital General San Juan de Dios, Guatemala City, Guatemala
Ahmad Al Khleifat, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, WC2R 2LS, England, United Kingdom

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