Today, thanks to newborn screening, spinal muscular atrophy (SMA) can be detected and treated early enough to change the natural course of the disease. Extensive research and advances have brought hope and possibilities to people living with SMA.1,2
The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.
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NEWBORN SCREENING
What is newborn screening (NBS) and why is it important?
NBS is a set of tests carried out at birth to screen babies for a list of disorders that would otherwise not be discovered at birth.2
By detecting these disorders at birth, you can make sure your baby is provided with the treatment and care they need.2
In many countries, screening for SMA is included in the NBS program. This makes it possible to treat babies affected by SMA as early as possible.1,3
The 2025 vision of the European Alliance is to ensure the availability of a test for SMA for all newborn children.3
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WINDOW OF OPPORTUNITY
Thanks to continued SMA research, disease-modifying treatments have become available, making the future of babies born with SMA a lot brighter than it was before.1,4
Early treatment is vital in order to save the motor neurons that send signals to the muscles needed to move, speak, swallow, and breathe.1,5
IMPORTANCE OF EARLY TREATMENT
You may have been asked to make a treatment decision for your baby with SMA. This is difficult during a time when you are still processing the news and trying to understand this disease, especially when your baby has no signs of SMA.6
However it is important to note that most children with SMA will show no symptoms of SMA for a few months after birth. Without NBS, the disease would go unnoticed during
this time.7 In the period before symptoms appear, irreversible degeneration of the motor neurons in the spinal cord occurs. In time, this degeneration results in a loss of muscle tone and muscle weakness.7
Treatment for SMA can start before symptoms appear, giving the chance of a better future for your baby.8
Cure SMA, a working group of expert clinicians and scientists, recommend that babies diagnosed with SMA with up to 4 copies of the SMN2 gene, should be treated immediately.1
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LISTEN TO LISA’S PERSPECTIVE
“We have to remember that this disease is active. It doesn’t have periods where it’s not working against the body. That clock ticks, and it ticks even harder on a smaller body.”
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Newborn screening is the best way to get an early diagnosis and offer every baby diagnosed with SMA the best possible chance of an independent life.5
The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.
References
1.Glascock J, Sampson J, Connolly AM, et al. Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via Newborn Screening who have 4 copies of SMN2. J Neuromuscul Dis. 2020;7(2):97-100.
2.Loeber JG, Platis D, Zetterström RH, et al. Neonatal screening in Europe revisited: An ISNS perspective on the current state and developments since 2010. Int J Neonatal Screen. 2021;7(1).
3.SMA NBS Alliance. European Alliance of Newborn Screening in spinal muscular atrophy [Accessed 5 December 2022]. Available from: https://www.sma-screening-alliance.org/.
4.Vill K, Schwartz O, Blaschek A, et al. Newborn screening for spinal muscular atrophy in germany: Clinical results after 2 years. Orphanet J Rare Dis. 2021;16(1):153.
5.European Alliance for Newborn Screening in SMA. Spinal muscular atrophy: Screen at birth, save lives. Whitepaper. 2021.
6.Kariyawasam DST, D'Silva AM, Vetsch J, et al. "We needed this": Perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy. EClinicalMedicine. 2021;33:100742.
7.Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371(9630):2120-2133.
8.De Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the phase 2 NURTURE study. Neuromuscular Disord. 2019;29(11):842-856.
