Case Report: The effect of early initiation of eteplirsen treatment on the cardiac and motor disease course in an individual with Duchenne muscular dystrophy - Summary - MDSpire
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Case Report: The effect of early initiation of eteplirsen treatment on the cardiac and motor disease course in an individual with Duchenne muscular dystrophy
To document the long-term effects of early eteplirsen treatment on stabilization of motor function and cardiac outcomes in a child with Duchenne muscular dystrophy (DMD) showing very early-onset cardiomyopathy.
Approach:
Patient Profile: A 7-year and 3-month-old male diagnosed with DMD after detecting a deletion of exons 48–50 of the DMD gene.
Treatment Initiation: Eteplirsen therapy was initiated at 24 months of age, alongside enalapril for cardiac symptoms.
Monitoring and Assessments: Regular follow-ups included motor evaluations, neurologic assessments, and cardiovascular examinations.
Key Findings:
The patient demonstrated stable cardiac function over 5 years of treatment.
Gradual motor improvement was observed despite persistent hyperlordosis and waddling gait.
The 6-minute walk test results remained stable throughout the treatment period.
Interpretation:
This case is the first documented instance of DMD reporting cardiac outcomes after eteplirsen treatment in a patient as young as 24 months.
Limitations:
The findings are based on a single case study, limiting generalizability.
Long-term effects beyond 5 years are not assessed.
Conclusion:
Early initiation of eteplirsen may contribute to stabilization of cardiac and motor functions in young patients with DMD.
