All babies in the UK should be screened for a rare genetic condition that causes muscle weakness, progressive loss of movement and paralysis, experts have said.
About 70 children are born with spinal muscular atrophy (SMA) each year in the UK.
Scientists have called for newborns to be checked for the condition, saying that most children with SMA will not be identified until symptoms appear when the baby is around six months old.
By this time, the vast majority of their neurons are already lost, resulting in irreversible damage to the nerves responsible for muscle function. This causes difficulties with eating, moving and breathing.
Screening experts have called for further assessments to see whether the test for SMA should be rolled out across the UK to help babies get treatment sooner, potentially slowing progression of the disease.
Giles Lomax, chief executive of charity SMA UK, said: “We see first-hand the difference early diagnosis and treatment makes.
“Any delays to initiating a UK-wide pilot, where every newborn in the UK is screened for SMA, has life-changing consequences for babies born with SMA and their families.”
Experts said the UK should follow other countries including Ukraine, Poland and Croatia by adding the test to the routine screening programme.
It said that since March 2021, 13 European countries have added a test for SMA to their newborn screening panels.
Laurent Servais, professor of paediatric neuromuscular disease at the University of Oxford, said: “We are far behind Ukraine, which introduced newborn screening for SMA in a state of war, and several countries in wider Europe where 65% of newborns are screened for SMA.
“We need to work hard with the National Screening Committee to help prevent the devastating consequences of SMA by introducing newborn screening in the UK.
“We are currently missing the chance to provide optimal treatment for one child born with SMA every five days.”
Novartis Gene Therapies said that the UK is lagging behind other European countries when it comes to screening for disease among babies.
It said the heel prick test can look for up to 50 diseases but the UK only screens for nine.
A Department of Health and Social Care spokesperson said: “The UK National Screening Committee has recommended a large-scale study for spinal muscular atrophy screening in newborns.
“We are also working alongside the Spinal Muscular Atrophy community to enhance understanding of the condition and explore screening options.”
Published: by Radio NewsHub