First baby identified through Scotland's Spinal Muscular Atrophy screening programme starts treatment

The first baby to be identified through Scotland’s pioneering Spinal Muscular Atrophy (SMA) newborn screening programme has started treatment following an early diagnosis.

The baby was tested for the rare genetic condition, that can cause progressive muscle weakness and affect movement, breathing and swallowing, at just five days old at Glasgow’s Queen Elizabeth University Hospital.

Following the positive result, the infant was rapidly referred to specialist services to begin treatment before symptoms developed.

The programme was launched in March 2026 and is the first of its kind in the UK, with tests carried out by the Scottish Newborn Screening Laboratory located at the Glasgow hospital.

All babies born in Scotland are now offered SMA screening as part of the routine newborn blood spot test.

The new test identifies babies with SMA before symptoms develop, allowing treatment to begin as early as possible.

Dr Sarah Smith, consultant clinical scientist and director of the Scottish Newborn Screening Laboratory, said: “This is exactly why the in-service evaluation of newborn screening for SMA was introduced.

“Identifying a baby before symptoms develop gives clinical teams the opportunity to act quickly and begin treatment at the earliest possible stage.

“While SMA remains a rare condition, this milestone demonstrates the real-life impact screening can have for babies and families across Scotland. Early diagnosis offers the best possible chance of improved outcomes and highlights the value of this important national programme.”

Dr Iain Horrocks, consultant paediatric neurologist, NHS Greater Glasgow and Clyde, said: “This baby was identified through screening at just five days of age and was able to access specialist care and treatment before symptoms had developed.

“For babies with SMA, early treatment can dramatically alter the course of the condition and improve future health and development. This diagnosis was made possible through newborn screening and has given this child the best possible opportunity for a healthier future.”