1. Expert Perspectives on Best Practices for Diagnosis and Management of Spinal Muscular Atrophy

3. This program will include a discussion of investigational agents not approved by the FDA for use in the US and data that were presented in abstract form. These data should be considered preliminary until published in a peer-reviewed journal.

4. Introduction to SMA

5. Spectrum of SMA Severity

6. Videos of Children With SMA

7. Suspect SMA? Order Genetic Testing

8. Genetics of SMA: Chromosome 5q13

9. SMN2 Gene Makes Small Amount of Protein

10. Number of SMN2 Copies Affects SMA Severity

11. Genetic Testing for SMA

12. Pathophysiology of SMA

13. Multidisciplinary Care of Patients With SMA

14. Mechanisms of Action of SMA Therapies

15. Phase 1 Trial of AVXS-101

16. Motor Response in High-Dose Group

17. Further Trials of AVXS-101

18. Other Investigational Agents for SMA

19. Principal Clinical Trials of Nusinersen

20. Nusinersen: ENDEAR Design

21. Nusinersen: ENDEAR Results

22. Nusinersen: NURTURE Interim Results

23. Newborn Screening for SMA

24. Other Changes Ahead in SMA Management

25. Summary

26. Abbreviations