The UK is facing mounting criticism as its continued delay in adding a test for a devastating muscle-wasting disease to routine newborn checks is resulting in dozens of babies being left needlessly paralysed each year. Medical experts and campaigners warn that while groundbreaking treatments exist, they are only effective if administered immediately after birth, before irreversible nerve damage occurs.
What is Spinal Muscular Atrophy and Why is Early Detection Critical?
Spinal muscular atrophy (SMA) is a genetic condition where a faulty SMN1 gene fails to produce a crucial protein that maintains motor neurons. These nerve cells act as a vital communication line between the brain, spinal cord, and muscles. Without the protein, the neurons die, causing muscles – particularly in the legs, chest, and arms – to waste away and weaken, often leading to paralysis.
The stark reality is that timing is everything. Three treatments are now approved and available on the NHS, including the one-off gene therapy Zolgensma, which can deliver a healthy copy of the gene. However, these interventions cannot reverse disability once nerve damage has begun, making diagnosis in the first days of life imperative.
The UK's Outlier Status on Newborn Screening
Currently, the UK's newborn heel prick test, taken when a baby is five days old, screens for just ten serious conditions. This pales in comparison to many other nations. Italy checks for 48, Austria for 31, and Poland and Portugal for 29. Crucially, screening for SMA is now routine in 65% of EU countries and 45 nations globally, including the United States, most of Europe, and even war-torn Ukraine.
In the UK, around 50 babies are born with SMA each year. Without universal screening, diagnosis often comes too late, as tragically highlighted by pop star Jesy Nelson, whose twin babies gradually lost the use of their legs before receiving a belated diagnosis and treatment.
A Decade of Delay and an 'Unethical' Pilot Plan
The UK National Screening Committee (NSC) first decided against adding SMA to the screening programme in 2018. Despite the subsequent approval of transformative treatments, the committee ruled in 2023 that further evidence was needed, demanding an "in-service evaluation" – a large-scale NHS pilot study.
This decision has been condemned by many clinicians. The pilot, which is not expected to start until 2027 at the earliest, would require a control group of babies who are not screened, a practice described as unethical by leading medics. This process could see SMA not added to routine UK screening until 2031.
In a significant move, NHS Scotland has broken ranks, announcing it will add SMA to its heel prick test from spring 2026. This leaves England, Wales, and Northern Ireland trailing. During the prolonged wait for the pilot and its results, it is estimated that an average of 33 babies with SMA will be diagnosed late each year, facing needless paralysis. The campaign for immediate, nationwide screening continues, urging health authorities to act before more families suffer preventable heartbreak.
