CLINICAL STABILITY IN A CHILD WITH DUCHENNE MUSCULAR DYSTROPHY WITH A NONSENSE MUTATION USING ATALUREN: A CASE REPORT

Abstract

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive genetic disease characterized by mutations in the dystrophin gene, leading to progressive muscle degeneration. Among the variants, the nonsense mutation is present in 10–15% of cases and allows for specific therapies, such as Ataluren. The objective of this study was to describe the clinical evolution of a patient with DMD and a nonsense mutation using Ataluren in the Amazon interior, evaluating its possible contribution to disease stability. This is a descriptive, observational, cross-sectional, and qualitative case report, based on a retrospective analysis of medical records. Clinical, laboratory, genetic, and functional data were collected, including the Vignos Scale, the 6-Minute Walk Test (6MWT), cardiological examinations, and spirometry. The patient maintained independent gait (Vignos level 2) until age 13, showed reduced decline in the 6MWT (from 340 m to 288 m in three and a half years), cardiac stability, and a mild to moderate restrictive ventilatory pattern, without early loss of ambulation. It is concluded that prolonged use of Ataluren may have contributed to slowing the patient's clinical progression, although methodological limitations do not allow for generalizations, reinforcing the need for multicenter studies.