Transforming the natural course of infantile onset thymidine kinase 2 deficiency through early nucleoside replacement therapy

Key Points

• To evaluate the impact of early nucleoside replacement therapy on motor function and disease progression in infantile-onset thymidine kinase 2 deficiency.
• Administered nucleoside therapy to infants diagnosed with TK2 deficiency
• Monitored motor function improvements
• Assessed disease progression over time
• Early therapy halted progression of the disease
• Restored motor function in affected infants

Abstract