Why early diagnosis matters 

Spinal muscular atrophy (SMA) is a serious genetic condition where early diagnosis and treatment dramatically improve outcomes. For SMA, timing is critical: once symptoms appear, motor neuron damage has already occurred and cannot be reversed. 

In the UK, most babies with SMA are diagnosed after symptoms begin. 60% of babies born with SMA are diagnosed with the most severe and fast progressing form of the condition, SMA type 1. For these babies, this delay can be devastating. 

Clinicians report that in the UK: 

• some babies with SMA type 1 are still dying 

• those who survive often cannot walk 

• many rely on ventilatory support and tube feeding 

By contrast, in countries with newborn screening for SMA, babies are diagnosed and treated before symptoms appear: 

• all survive 

• all are able to walk 

• none require ventilatory or nutritional support 

The difference is not the treatment, it is the timing.

What is newborn screening? 

In the UK, babies are offered newborn screening through the heel-prick blood spot test at around five days old. The NHS currently screens for nine rare but serious conditions, but SMA is not yet included. 

Decisions about screening are made by the UK National Screening Committee (NSC), which requires UK-specific evidence that screening is effective, safe, and workable within the NHS.

Why isn’t SMA included yet? 

In 2018, the NSC decided not to add SMA, before effective treatments were widely available on the NHS. Since then, strong evidence has shown that treating babies before symptoms appear leads to far better outcomes. 

In June 2023, the NSC agreed to move forward with an In-Service Evaluation (ISE), a pilot-style programme needed before SMA can be added to routine screening.

Delays and why they matter 

Planning for the ISE began in January 2024, but the start has been repeatedly delayed due to approval processes, NHS resource pressures, and wider government reviews. 

Every delay matters. Babies with SMA continue to be born without access to early diagnosis, and for SMA, lost time can never be recovered. 

In February 2025, leading clinicians warned in The Lancet about the “human toll of slow decisions”, highlighting how babies in the UK are being left behind compared with those born in countries with screening.

 SMA UK’s role 

We are delighted to see recent comments from Health Secretary Wes Streeting pledging to take a review of the current process for screening, he said, “I am determined to looks at not just screening for SMA, but to make much better use of genomic medicine” *  

SMA UK is closely involved in the ISE process, ensuring that the voices of babies and families are heard. We consistently: 

• push for the earliest possible start to screening 

• advocate for fast diagnosis and treatment pathways 

• ensure information for parents is clear and supportive 

Our commitment 

SMA UK will continue to campaign for newborn screening for SMA so that every baby born in the UK has the chance to be diagnosed early, treated early, and live the fullest life possible. 

To learn more about our work with newborn screening for SMA please read more here 

How you can help 

Newborn screening for SMA will only become a reality in the UK if momentum is maintained and decision-makers understand just how urgent this is for families. 

You can help by staying informed and standing with us as we push for change.  

Sign up to SMA UK’s newsletter to:  

• receive the latest updates on SMA, newborn screening and the In-Service Evaluation   

• hear about key developments as they happen  

• learn how you can support our campaigning and advocacy work  

By signing up, you help ensure that the voices of people affected by SMA continue to be heard and that no baby is left waiting for the diagnosis and treatment they urgently need. Thank you.   

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*Reference The Independent