Health Secretary Neil Gray confirmed that from early 2026, newborns in Scotland will be screened for Spinal Muscular Atrophy (SMA).
The debilitating genetic condition causes damage to the motor nerves in the spinal cord, leading to progressive muscle degeneration and disability.
Sufferers have muscle weakness, movement problems and difficulty breathing, and can also have swallowing, tremors, and spinal curves.
It affects an average of three to four babies a year in Scotland and about 70 infants a year across the UK.
From next year a two-year pilot, funded by the Scottish Government and pharmaceutical company Novartis, will see infants born in Scotland screened for the condition as part of the existing blood spot test down when babies are just five days old.
It is hoped this work will be able to gather evidence on the effectiveness of testing.
Giles Lomax, chief executive of the charity SMA UK hailed the introduction of testing in Scotland as a "hugely positive step forward", saying that testing babies at a few days old would allow them to be treated before they start to develop symptoms of the condition.
Mr Lomax said: "We are absolutely delighted to hear the news that the NHS Scotland will be adding SMA to their newborn screening programme in an evaluative and research capacity, with the aim of the first baby being tested early 2026."
He added: "With clinical pathways already established and disease modifying treatments approved, this means those babies born will be treated pre-symptomatically and can therefore, in many cases, follow normal developmental pathways."
Mr Lomax said that the data gathered over the two year period would contribute to a wider UK evaluation, and could "ultimately" help towards a recommendation for SMA to be added to the blood spot testing programme permanently.
He stated: "This is a hugely positive step forward with Scotland joining other countries around the world who already screen for SMA."
Scottish Health Secretary Neil Gray meanwhile said that SMA can "have devastating impacts for babies and their families".
He stated: "This investment demonstrates our commitment to early detection through our screening programme.
"I would like to thank SMA UK and all the campaigners across Scotland who have worked so hard to highlight this issue as well as Novartis for their funding."
Mr Gray continued: "By detecting SMA before symptoms develop, screening could allow earlier treatment which could lead to much better life outcomes.
"This investment will contribute towards building the case for making this test permanent and help secure the best possible care and support for babies and families."
Novartis UK and Ireland chief medical officer Rob Hastings meanwhile said the introduction of testing was a "landmark decision for families in Scotland, offering hope and an opportunity for early detection and access to care for children born with SMA".
He added: "We welcome this progress and continue to support efforts to expand newborn screening across the UK, to ensure every child has the opportunity to be screened and treated for this rare and devastating condition."
Dr Sarah Smith, consultant clinical scientist and director of the Scottish Newborn Screening Laboratory on the Queen Elizabeth University Hospital campus in Glasgow, where the tests will be analysed, said that the "important screening evaluation" would "benefit babies and their families across Scotland by allowing babies with this condition to access treatment where it is appropriate more quickly, leading to better outcomes".
Dr Smith said: "We welcome these plans for SMA to be evaluated as part of our screening programme, allowing for evidence to be gathered on the test's effectiveness."
