Dados do Trabalho

Título

CLINICAL AND GENETIC PROFILE OF PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY IN A TERTIARY HOSPITAL IN NORTHEASTERN BRAZIL

Introdução

Duchenne Muscular Dystrophy (DMD) is a disease caused by a mutation in the DMD gene, located on the X chromosome, which prevents the proper formation of the muscular isoform of the dystrophin protein. It is characterized by progressive muscle weakness due to muscle atrophy and liposubstitution, with degeneration of the skeletal and cardiac muscles.

Objetivo

To evaluate the clinical profile and genetic mutations of pediatric patients with DMD.

Método

Retrospective cross-sectional study with consultation of the outpatient records of the population with DMD treated at a specialized reference center of a university hospital in northeastern Brazil.

Resultados

Nine male patients were assessed, with onset of symptoms between 3 and 10 years of age. Among the mutation types, we found 3 patients (33.3%) with a nonsense variant, 3 patients (33.3%) with a deletion variant, 2 patients (22.2%) with a duplication and 1 patient (11.1%) with a frameshift amino acid substitution. Three patients (33.3%) are wheelchair dependent, 2 of them with a duplication variant and 1 with a nonsense variant. Eight of the nine patients underwent an echocardiogram, with 6 of them (66.6%%) having a normal echocardiogram, while 2 (22.2%) have cardiac repercussions, one of them with eccentric left ventricular (LV) hypertrophy and systolic and diastolic dysfunction, and the other with mild LV systolic dysfunction, with tricuspid and pulmonary reflux; the former with a duplication genetic pattern, and the latter with a deletion variant. Five patients (55.5%) underwent spirometry, 1 with respiratory function at the lower limit of normal (patient with nonsense variant), and the others with normal respiratory function. All the patients use corticosteroid therapy, and the patients with the nonsense variant receive ataluren in addition to corticosteroids.

Conclusão

DMD is a progressive neuromuscular disease with functional repercussions on skeletal muscles and the cardiovascular system. It requires attention for early diagnosis and definition of a therapeutic strategy, as well as multidisciplinary monitoring for better rehabilitation. It is of the utmost importance to recognize the most prevalent types of variant in the region, not only for epidemiological purposes, but also to help with therapeutic decisions.

Referências

Duan, D., et al. Duchenne muscular dystrophy. Nature Reviews | Disease Primers | Article citation ID: (2021) Feb 18;7(1):13.
Falzarano, M. S., et al. Duchenne Muscular Dystrophy: From Diagnosis to Therapy. Molecules. 2015 Oct 7;20(10):18168-84.
Annexstad, E. J., et al. Duchenne muscular dystrophy. Tidsskr Nor Legeforen nr. 14, 2014; 134: 1361 – 4.

Palavras Chave

Duchenne muscular dystrophy; Genetic; clinical profile