Spinal muscular atrophy (SMA) is a rare, inherited monogenic disease characterised by motor neuron degeneration and muscle weakness^4,5

Listen to mum, Carolyn, describe her family’s journey with John’s prenatal SMA diagnosis and early treatment at birth.

Until recently, SMA was a devastating and often fatal disease^6–8
Three PBS-reimbursed disease-modifying therapies for infants with SMA have been available from June 2021^8–14
Reproductive and treatment options should be discussed with appropriate specialists as early as possible

Click here for contact details to refer SMA genetic carrier couples to Genetic Counsellors who have expertise in available treatment options

 

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PBS, Pharmaceutical Benefits Scheme; SMA, spinal muscular atrophy.
References: 1. Govoni A et al. Mol Neurobiol 2018;55(8):6307–18. 2. Wang CH et al. J Child Neurol 2007;22:1027–49. 3. Lin CWL et al. Ped Neurol 2015;53:293–300. 4. Glascock J et al. J Neuromusc Dis 2018;5:145–58. 5. Farrar MA et al. Ann Neurol 2017;81:355–68. 6. Mendell JR et al. N Engl J Med 2017;377(18):1713–22. 7. Hjartarson H et al. Drug Des Devel Ther 2022;16:1865–83. 8. Services Australia. Spinal Muscular Atrophy. Available at: www.servicesaustralia.gov.au/spinal-muscular-atrophy (accessed October 2024). 9. Novartis Pharmaceuticals Australia Pty Ltd. Zolgensma (onasemnogene abeparvovec) Approved Product Information. 10. Biogen Australia Pty Ltd. Spinraza (nusinersen heptadecasodium) Approved Product Information. 11. Roche Products Pty Limited. Evrysdi (risdiplam) Approved Product Information. 12. Australian Government Department of Health and Aged Care. Pharmaceutical Benefits Scheme. Zolgensma. Available at: www.pbs.gov.au/pbs/search?term=zolgensma (accessed October 2024). 13. Australian Government Department of Health and Aged Care. Pharmaceutical Benefits Scheme. Spinraza. Available at: www.pbs.gov.au/pbs/search?term=spinraza (accessed October 2024). 14. Australian Government Department of Health and Aged Care. Pharmaceutical Benefits Scheme. Evrysdi. Available at: www.pbs.gov.au/pbs/search?term=Evrysdi (accessed October 2024).