Dados do Trabalho

Título

DUCHENNE MUSCULAR DYSTROPHY THROUGH THE DECADES: CLINICAL-DEMOGRAPHIC PROFILE 2000-2012 AND 2013-2024 IN A SINGLE NEUROMUSCULAR CENTER

Introdução

Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of ~0.5 cases/10.000 male births. This is a fatal X-linked disease that leads to premature death due to the loss of dystrophin. Late diagnosis and adherence to treatment are huge challenges in our health system, as well as, late start of multidisciplinary care and medication.

Objetivo

To evaluate differences in a clinical and demographic profile of DMD cohort and compare this data between two decades: before and after 2012 in the main clinical center of neuromuscular disorders in Rio de Janeiro.

Método

Retrospective, observational and descriptive study of a DMD cohort, registering clinical-demographic data (age of first symptoms, age of diagnosis, ge of death, type of diagnostic test, duration of schooling, neurocognitive comorbidities, duration of multidisciplinary therapies, age of start and duration of corticosteroids and cardiac medication) in two groups: 2000-2012 and 2013-2024.

Resultados

Cohort 1(2000-2012): were registered 21 DMD boys (mean age: 21.7y ±2.3): age of first symptoms was 3y (±2.1), age of diagnosis was 8y (±4.1), 31% of patients were diagnosed by muscular biopsy and 69% were diagnosed by molecular tests, loss of ambulation was 10.6y (±2.3), duration of schooling was 9y (±4.3), 45% of patients with intellectual disability, duration of motor and respiratory physiotherapy was 3.5y (±5.9) and 6y (±4.6), respectively; duration of corticosteroids was 10y (±5.2); age of start of cardiac medication was 10y (±4.7); and age of death (6/21) was 18.65y (±2.2). Cohort 2(2013-2024): were registered 45 DMD boys (mean age: 12.6y ±4.9): age of first symptoms was 3y (±1.7), age of diagnosis was 6y (±2.3), 6% of patients were diagnosed by muscular biopsy and 93% were diagnosed by molecular tests, loss of ambulation was 9y (±2.3), duration of schooling was 7y (±3.6), 44% of patients with intellectual disability, duration of motor and respiratory physiotherapy was 3y (±3.3) and 1y (±4.6), respectively; duration of corticosteroids was 6y (±3.6); age of start of cardiac medication was 10y (±5.4); and age of death (3/45) was 12.8y (±1.2).

Conclusão

First symptoms could be detected by parents around 3y over time, and there was a subtle decrease in age of diagnosis from 8y (200-2012) to 6y (2013-2024). It's important to strengthen medical education about early warning signs of disease.

Referências

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Palavras Chave

Duchenne muscular dystrophy; Early Diagnosis; clinical profile