Scotland has become the first part of the UK to screen newborn babies for spinal muscular atrophy (SMA), a rare genetic condition that causes progressive muscle wastage.
Campaigners, who have long advocated for newborn testing because early detection is critical for treatment outcomes, hope the Scottish pilot will result in approval for the heel prick test across the UK.
SMA affects an estimated 1 in 14,000 births worldwide and impacts movement, breathing and swallowing, and can limit life expectancy to two years without treatment.
The condition was brought to wider attention after the former Little Mix singer Jesy Nelson revealed in January that her twin daughters, who were born prematurely in May 2025, had been diagnosed with SMA.
Babies diagnosed only after they display symptoms have more limited options because damage to nerve cells cannot be reversed.
Nelson said it took “the most gruelling three, four months, and endless appointments” before her babies were diagnosed with SMA type 1, which accounts for about 60% of all cases of the condition.
Her petition calling for SMA to be added to postbirth baby checks elsewhere in the UK passed 100,000 signatures in February, and will be debated in the Commons.
All parents in Scotland are now offered SMA screening for their newborns through the existing heel prick test, which is taken about four days after birth.
The Scottish government and pharmaceutical company Novartis are funding a two-year evaluation to assess how well screening can detect the condition earlier, allowing babies to receive treatment as soon as possible.
On average, three to four babies a year are born with SMA in Scotland. There is no cure for the condition but there are now three NHS-funded drug treatments available.
Giles Lomax, the chief executive of the charity SMA UK, said the screening pilot in Scotland would be “a huge impetus for other parts of the UK to speed up their own testing plans”. He hopes the Scotland trial will provide data that would convince the UK National Screening Committee to approve UK-wide testing.
“Every month another four babies are diagnosed with SMA and the clock is always ticking,” Lomax said.
“With all three treatments now routinely available through NHS Scotland alongside newborn screening, the future for anyone diagnosed with SMA is very different compared to their peers who were diagnosed symptomatically. It basically gives children the life they deserve.”
Although SMA is a rare condition, an estimated 1 in 40 people carry the altered gene. This means that when two people with the gene have a baby there is a one-in-four chance that the child will have SMA.
