Clinical and epidemiological profile of patients with Duchenne muscular dystrophy in a tertiary care pediatric hospital in Mexico

Rosa H. Múnera-Libreros, Servicio de Neurologia Pediátrica, Instituto Nacional de Pediatria, Mexico City, Mexico
Matilde Ruíz-García, Jefatura de Servicio de Neurologia Pediátrica, Instituto Nacional de Pediatria, Mexico City, Mexico
Jorge Sanchez-Vargas, Servicio de Neurologia Pediátrica, Instituto Nacional de Pediatria, Mexico City, Mexico

Objective: The objective of the study is to describe the clinical, epidemiological, and genetic profile of patients with Duchenne muscular dystrophy (DMD) treated at a tertiary care pediatric hospital in Mexico. Methods: This was a retrospective, observational study of 74 patients with genetically or biopsy-confirmed DMD who were evaluated by Pediatric Neurology between 2010 and 2022. Clinical, demographic, biochemical, genetic, and therapeutic data were analyzed using descriptive statistics. Results: All patients were male. The median age of symptom onset was 3 years, with a median age at diagnosis of 7 years. At the initial evaluation, 87% were in the ambulatory stage. Gastrocnemius hypertrophy (94.5%) and Gowers’ sign (87.8%) were common findings. Deletions in exons 45-55 of the DMD gene were identified in 74% of molecularly confirmed cases. Steroid therapy was administered to 81% of patients, mostly deflazacort. Neuropsychiatric (41.9%), orthopedic (44.5%), and respiratory (44.6%) comorbidities were frequently observed. Only 6.7% were candidates for gene therapy. The mean age at loss of ambulation was 10.2 years; one death due to respiratory failure was recorded. Conclusions: Despite advances in diagnostic and therapeutic strategies, patients with DMD in this setting continue to have poor outcomes, likely due to low clinical suspicion leading to delayed diagnosis and treatment. Early detection protocols, measurement of creatine kinase in children with motor delays, and multidisciplinary management are crucial to improving outcomes and survival.

Keywords: Duchenne muscular dystrophy. Molecular testing.