Babies in the UK are at risk of unnecessary paralysis due to delays in testing for spinal muscular atrophy (SMA), a genetic disorder that affects muscle function. Early diagnosis and treatment with gene therapies can prevent paralysis, but these interventions must be administered shortly after birth to be effective.
To address this issue, a campaign has been launched by the Mirror urging the inclusion of an SMA test in the NHS newborn screening program. SMA is caused by a genetic mutation that impairs the production of a vital protein responsible for maintaining nerve cell health and muscle function.
While the NHS currently offers three approved treatments for SMA, including Nusinersen (Spinraza), Evrysdi, and Zolgensma, these therapies are most effective when initiated early, before irreversible nerve damage occurs. However, the UK lags behind other countries in newborn SMA screening, with only a fraction of European nations conducting these tests.
Despite growing evidence supporting the benefits of early screening and treatment for SMA, the UK National Screening Committee has hesitated to recommend routine screening. While Scotland has taken a proactive approach by implementing SMA screening, parts of England are still awaiting the start of an in-service evaluation, delaying potential nationwide screening until at least 2031.
The delay in implementing SMA screening poses a significant risk to newborns, as early detection is crucial for preventing irreversible paralysis and ensuring timely access to life-saving treatments.