Every Moment Matters: the urgent need for newborn screening for Spinal Muscular Atrophy (SMA) in the UK
Spinal Muscular Atrophy (SMA) is a rare, genetic condition that affects around 70 babies each year, with approximately one baby being born with SMA every five days in the UK. SMA is characterised by the loss of motor neurons in the spinal cord and, if left untreated, babies affected will experience progressive muscle weakness and problems with mobility. Devastatingly, around 90 per cent of babies with SMA Type 1 – the most common type – will require permanent ventilation or die before their second birthday, making SMA the leading genetic cause of infant death in the UK. Michael Oliver The progressive nature of the disease means that, without timely intervention, 95 per cent of motor neurons will have already been lost by the time of diagnosis – around the age of 6.