NHS Greater Glasgow and Clyde trials screening for spinal muscular atrophy for all newborns

NHS Greater Glasgow and Clyde will now test newborn babies to see if they have spinal muscular atrophy (SMA), a rare condition which causes progressive muscle wastage. It can affect movement, breathing and swallowing. The Scottish Government and pharmaceutical company Novartis are funding the two-year evaluation to assess how well SMA screening can detect the condition earlier, allowing babies to receive treatment as soon as possible.

Previously, those affected will have been tested once they displayed symptoms. Scotland is now the first part of the UK to screen newborn babies for the condition. On average, three to four babies a year are born with SMA in Scotland. All parents are now offered SMA screening for their newborns through the existing blood spot test, which is taken around day four after birth.

Dr Sarah Smith, NHSGGC’s Consultant Clinical Scientist and Director of the Scottish Newborn Screening Laboratory, says: “We are working closely with the UK National Screening Committee and other UK laboratories to assess the screen in a real-life setting. Our staff have worked tirelessly to begin screening as quickly as possible so we can start to understand the impact that earlier treatment may have on babies born with this condition.”

Health Secretary Neil Gray adds: “Scotland is the first country in the UK to start the evaluation of SMA screening. SMA can have devastating implications for babies and their families, and this investment demonstrates our commitment to early detection through our screening programme.

“I thank SMA UK and local campaigners who have worked so hard to highlight this issue and Novartis for its funding. By detecting SMA before symptoms develop, screening could allow earlier treatment which could be life-changing and help secure the best possible care and support for babies and families.”

SMA UK charity CEO Giles Lomax comments: “This milestone represents an important step forward for the SMA community. 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.

These babies will now have the opportunity to grow up without life-long healthcare needs and the complexity and challenges of living with SMA. I would like to thank the Scottish Government, the numerous clinicians and the Scottish Muscle Network as well as Novartis for their on-going support to drive change.”

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