Clinical and epidemiological profile of patients with Duchenne muscular dystrophy in a tertiary care pediatric hospital in 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 o...
| Published in: | Revista Mexicana de Neurociencia Vol. 27; no. 3; pp. 110 - 118 |
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| Main Authors: | , , |
| Format: | Article |
| Published: |
Academia Mexicana de Neurologia
May/Jun2026
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| Subjects: | |
| Online Access: | View this record in EBSCOhost |
| Summary: | 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. Objetivo: Describir el perfil clínico, epidemiológico y genético de pacientes con distrofia muscular de Duchenne (DMD) atendidos en un hospital pediátrico de tercer nivel en México. Métodos: Estudio observacional, retrospectivo, de una cohorte de 74 pacientes con diagnóstico confirmado de DMD, atendidos entre 2010 y 2022 por Neurología Pediátrica. Se analizaron variables clínicas, demográficas, bioquímicas, genéticas y terapéuticas mediante estadística descriptiva. Resultados: Todos los pacientes fueron varones. La edad mediana de inicio de síntomas fue de 3 años, con diagnóstico neurológico a los 7 años. En 87% de los casos, la valoración inicial fue en fase ambulatoria. El 94.5% presentó hipertrofia de gastrocnemios y el 87.8% signo de Gowers. Se identificaron deleciones en los exones 45-55 del gen DMD en 74% de los casos confirmados genéticamente. El 81% recibió esteroides, principalmente Deflazacort. Se observaron comorbilidades neuropsiquiátricas (41.9%), ortopédicas (44.5%) y respiratorias (44.6%). Solo 6.7% fue candidato a terapia génica. La edad media de pérdida de la marcha fue 10.2 años; se reportó una defunción. Conclusiones: El diagnóstico y tratamiento de la DMD continúa siendo tardío en México. La implementación de protocolos de detección temprana, evaluación con CPK ante retraso motor, y un enfoque multidisciplinario podrían mejorar la calidad de vida y la supervivencia en esta población. |
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