Dados do Trabalho

Título

INCLUDING DEVELOPMENT DELAY AS AN EARLY SYMPTOM OF DUCHENNE MUSCULAR DYSTROPHY (DMD) IMPROVE AGE OF DIAGNOSIS.

Introdução

INTRODUTION: Duchenne muscular dystrophy (DMD), the most frequent inherited neuromuscular disease in children, typically presents first symptoms around 3-5 years of age with a progressive muscular weakness. However, in a proportion of boys, the disease presents in early childhood with development delay milestones, including delays in walking and language or an autistic spectrum disorder (ASD).

Objetivo

OBJECTIVE: To compare the age and time until diagnosis in DMD boys with or without delay development as the first sign of disease.

Método

MATERIAL AND METHODS: This is a retrospective descriptive study. Data were collected from 129 boys with DMD who were followed in the Outpatient Muscle Clinic at the Hospital das Clinicas (FMUSP/SP) from 2015 to 2024. To determine the age and time interval between the onset of symptoms and diagnosis, we considered the total sample and three separated groups according initial symptom.

Resultados

RESULTS: From the total sample, the mean age of diagnosis was 6.9 years, and the interval until diagnosis was at mean of 3.6 years. In patients with delay development, the initial symptom was noted in a mean age at 1.4 years, and even with the delay in diagnosis of 3.4 years, patients had a diagnosis with a mean of 2.7 years earlier when compared to patients with normal development.

Conclusão

CONCLUSION: Our results suggests that DMD must be considered in the differential diagnosis of a boy with a developmental delay (motor, cognitive, or language), and in these cases, screening with measure of CK levels is crucial.

Referências

8.Banihani R, Smile S, Yoon G, et al. Cognitive and Neurobehavioral Profile in Boys with Duchenne Muscular Dystrophy. J Child Neurol. 2015 Oct 6;30(11):1472–82

Palavras Chave

duchenne; DEVELOPMENT DELAY; Early-age treatment