Genetic and Clinical Landscape of Duchenne Muscular Dystrophy in Guatemala: Insights from a National Study
Listed in
This article is not in any list yet, why not save it to one of your lists.Abstract
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.
