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.
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 6.3 months – leading to devastating and irreversible effects.Without treatment, babies living with the disease will typically experience difficulty breathing, swallowing and sitting unsupported. This means babies with SMA are likely to miss key developmental milestones such as sitting, rolling, crawling, standing or walking.
Early detection of the disease within days of birth is therefore critical in ensuring babies can be offered an appropriate treatment and care plan before they begin to experience symptoms. It also provides a key opportunity to transform the lives of babies and families affected.
Despite this, British babies are not routinely screened for SMA. On this issue, the UK remains a significant outlier in comparison to other European countries: SMA is included in the national newborn screening programmes within more than half of EU member states, and nearly two-thirds of Europe geographically.
Urgent action is needed, and it is needed now. It is vital that we challenge the status quo in the UK and address this unacceptable inequality that newborns face if they are diagnosed with SMA in this country.