Information for parents: Spinal muscular atrophy suspected following newborn blood spot screening
Published 30 September 2026
Applies to England
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This publication is available at https://www.gov.uk/government/publications/spinal-muscular-atrophy-sma-information-for-parents/information-for-parents-spinal-muscular-atrophy-suspected-following-newborn-blood-spot-screening
In this information, the word ‘we’ refers to the NHS service that provides screening.
This information is for parents if your baby is suspected of having spinal muscular atrophy (SMA) following their newborn blood spot screening test (the heel prick test). It will help you and your healthcare professionals talk through the next stages of your baby’s care.
Screening identifies babies who are more likely to have SMA, but additional tests are needed to confirm the diagnosis.
Early identification of SMA can allow specialist assessment and treatment to begin as soon as possible, before symptoms develop or become more severe.
We hope this information will provide you with some additional detail about SMA and direct you towards further support if required.
1. About spinal muscular atrophy (SMA)
Spinal muscular atrophy (SMA) is a rare inherited genetic condition that affects the nerves that control muscle movement. It can cause muscle weakness and wasting (atrophy), which gets worse over time. It may affect movement, breathing and swallowing.
There are different types of SMA, and the impact it has varies from person to person. Symptoms can start at different ages, from newborn to young adult. In the most severe cases it can be life-threatening. SMA does not affect intellectual or learning ability.
The most common form of SMA is known as 5q SMA (Types 1, 2, 3 and 4), which is caused by changes in a gene called SMN1. The type of SMA depends on another gene, SMN2, which acts as a back-up gene for SMN1. Generally, having more copies of the SMN2 gene is associated with less severe symptoms of SMA.
2. Screening and diagnosis of SMA
2.1 Newborn blood spot screening
When your baby was about 5 days old, your midwife took a small sample of blood from your baby’s heel for their newborn blood spot screening test, which looks for several rare but serious conditions.
The test for SMA analyses a small fragment of DNA using the same blood sample taken during the newborn blood spot screening test.
We all have 2 copies of the SMN1 gene - one copy inherited from each parent. Sometimes, the SMN1 gene is altered (they are different from how they should be). A baby with SMA has inherited 2 altered SMN1 genes, one from each parent, which together cause the condition.
If your baby’s blood sample shows altered SMN1 genes this means your baby is likely to have SMA. This will be reported as ‘SMA suspected’ (sometimes called a screen positive result), but further tests and an urgent assessment by a specialist team are needed to find out whether your baby has the condition.
2.2 Diagnostic tests
If your baby has a ‘SMA suspected’ result, you will be contacted straight away and offered an appointment with a specialist neuromuscular team. This may include a doctor, specialist nurse and other healthcare professionals experienced in caring for babies with SMA. This team may not be based in your local hospital.
The specialist team will assess your baby. This is to check on their general health, and to look for any symptoms of SMA. They will also take another blood sample for genetic testing to confirm the screening test results and help guide the treatment decisions.
Part of the test for SMA includes identifying the number of copies of the SMN2 gene, as this information determines the type of SMA and the treatment options available.
The team will explain which type of SMA they suspect your baby has. Each type of SMA can affect people in different ways.
You will need to wait a few days for the test results. During this time, the specialist team will be available to answer your questions and provide support.
2.3 Treatment
Whilst there is no cure for SMA, there are effective drug treatments and other therapies that can help reduce the symptoms. These work better if started as early as possible. If given before symptoms start, the drugs can help stop symptoms developing. The specialist team will talk with you about whether treatment needs to be started, and what this might be.
They will also discuss ongoing care, monitoring and support for your family.
Current treatments for SMA
The main treatments for SMA target the altered genes that cause SMA. These are:
- Nusinersen (Spinraza®)
- Risdiplam (Evrysdi®)
- Onasemnogene abeparvovec (Zolgensma®)
The specialist team will be able to discuss the risks and benefits of any possible treatments with you.
3. More information and support
The specialist team caring for your baby will be happy to discuss any questions or concerns you may have.
We recommend that you use the resources below for reliable and up-to-date information:
- NHS information about SMA: Spinal muscular atrophy (SMA)
- SMA UK: SMA UK a charity which provides information, practical support and links to other families affected by SMA. They have specific information when the newborn blood spot test shows a ‘suspected SMA’ result.
- Muscular Dystrophy UK: Together we are stronger - Muscular Dystrophy UK a charity for those living with or caring for someone with a muscle wasting condition
If you have any immediate concerns about your baby’s health before your specialist appointment, please contact your healthcare professional or local hospital without delay.