What is spinal muscular atrophy (SMA) and why is early testing crucial in the UK?

SMA is a genetic muscle-wasting disease. Early testing is crucial as gene therapies can prevent paralysis if given at birth before irreversible nerve damage occurs.

Why is the UK National Screening Committee delaying SMA screening for newborns?

The committee has repeatedly requested further studies and evaluations, delaying the decision to add SMA to the newborn screening program, despite available treatments.

Which countries screen newborns for SMA, and how does the UK compare?

The UK lags significantly behind, with 45 countries, including the US and most of Europe, already screening for SMA. Italy, Austria, Poland, and Portugal screen for more conditions than the UK.

Home / Health / UK lags on newborn screening for muscle wasting disease

UK lags on newborn screening for muscle wasting disease

8 Jan

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Summary

Gene therapies can prevent SMA paralysis if given at birth.
UK tests for only 10 of 50 serious newborn conditions.
UK's SMA screening decision expected no earlier than 2031.

UK lags on newborn screening for muscle wasting disease

Newborns in the UK are being left paralyzed by spinal muscular atrophy (SMA) because the country is significantly behind in implementing essential screening tests. Gene therapies, available since 2019, can prevent paralysis if administered at birth, before irreversible nerve damage occurs. However, the UK's newborn heel prick test currently screens for only 10 out of 50 potential serious health conditions, a stark contrast to many European countries.

The UK National Screening Committee has repeatedly delayed adding SMA to the newborn screening program. Despite evidence demonstrating the benefits of early treatment, the committee decided in 2023 that further studies were required, leading to an "in-service evaluation" that is not expected to begin until 2027 at the earliest. This prolonged process means that routine screening is unlikely before 2031.

While NHS Scotland will begin newborn screening for SMA in spring 2026, other parts of the UK are part of a research project with a control group, a move criticized as unethical. This slow progress leaves an estimated 11 babies annually diagnosed late each year, facing preventable paralysis and a lifetime of disability.