Dados do Trabalho

Título

DISEASE BURDEN AND OUTCOMES IN ADULT PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY

Introdução

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the DMD gene, leading to a lack of dystrophin. This results in progressive muscle weakness, loss of ambulation (LOA) by ages 10-14, dilated cardiomyopathy, and respiratory insufficiency. Advances in standards of care over the past 30 years, such as ventilatory support, glucocorticoids, cardiac interventions, and multidisciplinary care, have changed the disease's natural history. However, the burden and outcomes for adult DMD patients are still not well described.

Objetivo

This study aims to describe the disease outcomes and burden in adult patients with DMD followed by a specialized care service.

Método

A retrospective cross-sectional study was conducted by reviewing medical records. Inclusion criteria were: (1) patients who lost ambulation before the age of 12 years (clinical diagnosis of Duchenne); (2) patients who lost ambulation by the age of 16 years at the latest (intermediate clinical presentation) but had loss-of-function variants (out-of-frame and nonsense); (3) patients older than 18 years old; (4) patients using steroids: prednisolone or Deflazacort, but with variable doses.

Resultados

Thirty patients were included in the study. Eighteen out of thirty patients (60%) had deletions, six out of thirty had duplications (20%) , and six out of thirty (20%) had point mutations in the DMD gene. The current average age of the patients is 22.5 years (SD: ±3.9; range: 18-33 years). On average, the patients used corticosteroid therapy for 12.8 years (SD: ±4.9; range: 5-24 years). The average age of ambulation loss was 12 years (SD: ±2.2 years; range: 7-15 years). Twenty out of thirty patients (66.6%) had cardiomyopathy with an ejection fraction (EF) of less than 50%, and sixteen out of thirty patients (53.3%) required more than one heart medication. Eleven out of thirty patients (36.6%) used nocturnal non-invasive ventilation, with three out of thirty patients (10%) also requiring daytime non-invasive ventilation. Five out of thirty patients (16.6%) had been hospitalized for pneumonia. Eight out of thirty patients (26.6%) experienced dysphagia, necessitating adjustments to the consistency of their diet. Seventeen out of thirty patients (56.6%) had osteoporosis, and nine out of thirty patients (30%) had fractures, with three (10%) experiencing more than one fracture.

Conclusão

Duchenne muscular dystrophy is a disease with a high burden, and adult care is complex, requiring a multidisciplinary team.

Referências

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Palavras Chave

Duchenne muscular dystrophy; disease burden; outcome