Newborn babies in England are to be tested for spinal muscular atrophy (SMA) straight after birth, under a national screening evaluation programme designed to catch the rare genetic condition before symptoms appear — when treatment has the best chance of changing a child’s future.
SMA is a rare autosomal recessive neuromuscular condition due to a fault in the survival motor neuron 1 (SMN1) gene. This leads to a deficit of the SMN protein important for survival of spinal motor neurons, so they progressively deteriorate and die, causing severe muscle wasting and weakness. Loss of mobility is typically accompanied by breathing and swallowing difficulties that in severe cases can be life-limiting.
Early diagnosis offers the best chance of successful treatment that can significantly improve outcomes for affected children. Charities and patient campaigners welcomed the screening programme, describing it as a “landmark moment”.
Rollout Sped Up After Petition
In a joint announcement, the Department of Health and Social Care (DHSC), NHS England (NHSE), and the National Institute for Health and Care Excellence said laboratories were set to start newborn screening for SMA from October 2026, three months ahead of schedule. The initial phase — seven laboratories already equipped to screen for SMA — will cover an estimated 72% of newborns in England, Muscular Dystrophy UK said, citing the NHS England in-service evaluation.
The government committed to speeding up the rollout following a Westminster Hall debate last month triggered by an online petition that has attracted more than 150,000 signatures.
The remaining six neonatal screening laboratories will begin screening from October 2027, so that every newborn baby in England will then have access to SMA screening, regardless of where they are born.
Private Investment Sought to Fund Programme
The programme in England follows the introduction of the test across Scotland in March this year. The DHSC said that, as in Scotland, it would be seeking private investment to fund the rollout. The initial £4.1 million evaluation is being funded through the National Institute for Health and Care Research.
Results will be analysed by scientists at the University of Oxford to inform future UK National Screening Committee (NSC) recommendations. The NSC rejected a request to consider a newborn screening programme for SMA in 2018, on the grounds of insufficient evidence that it would do more good than harm.
However, an NSC review last year estimated that introducing SMA screening would each year: prevent three early deaths, avoid two babies requiring permanent ventilation, prevent about 30 babies being confined to sitting, and enable 37 babies to live a largely normal life. It cautioned nonetheless that testing might also lead to three babies a year being diagnosed with SMA who would not have been affected until adulthood, and earlier intervention could “harm their health and wellbeing”.
Condition More Severe the Earlier Symptoms Begin
Untreated, SMA symptoms usually begin in babies or toddlers but can also start in teenagers and adults. They may include
- Floppy or weak arms and legs
- Difficulty sitting up, crawling or walking
- Problems with breathing or swallowing
- Muscle tremors
- Bone and joint problems such as scoliosis
The condition is usually more severe the earlier symptoms begin, and without treatment can lead to irreversible loss of motor neurons. Infants with SMA type 1 do not acquire motor milestones and rarely survive beyond one year. Children with SMA type 2 are never able to walk independently, and most individuals with SMA type 3 lose the ability to walk before age 30. SMA does not affect intelligence or cause learning disabilities.
Treatments Now Available
Drug treatments that target the affected genes are the mainstay of treatment, including nusinersen (Spinraza), risdiplam (Evrysdi), and onasemnogene abeparvovec (Zolgensma). Patients may also be offered physiotherapy, mobility equipment, braces, supports, and occasionally surgery.
The SMA test will be incorporated into the newborn blood spot (“heel prick”) test offered to the parents of all newborns at around day 5 after birth, to detect 10 rare but serious conditions where early intervention can potentially prevent severe disability. Announcing the test evaluation programme, Secretary of State for Health and Social Care James Murray said: “No parent should have to watch their child lose the ability to move or breathe, knowing that earlier treatment could have made all the difference.”
Giles Lomax, chief executive of Spinal Muscular Atrophy UK (SMA UK), said the rollout was “a hugely important step forward” and thousands of babies would benefit from earlier diagnosis and access to treatment.
Andy Fletcher, chief executive of Muscular Dystrophy UK, said the decision to introduce newborn screening for SMA across England was “a landmark moment for the SMA community”. The development “will be life-changing for future generations of children born with the condition”, he said.
Dr Sheena Meredith is an established medical writer, editor, and consultant in healthcare communications, with extensive experience writing for medical professionals and the general public. She is qualified in medicine and in law and medical ethics.