New test to identify Spinal Muscular Atrophy in babies launches in Wessex

A library image of a mother holding the feet of her baby. Credit: PA

Testing to identify babies more with Spinal Muscular Atrophy (SMA) is being rolled out in across Wessex.

The screening, part of a study run by Oxford University, will see 8000 babies tested over the next 14 months.

If identified at birth SMA can be treated and give newborns the best chance of living long and healthy lives.

The screening is administered via a prick to the heel, which allows scientists to test the blood of the baby for the genetic markers.

Mums giving birth at Salisbury Hospital, University Hospital Southampton, University Hospitals Dorset and Portsmouth Hospital will be invited to take part in the screening.

The test is administered through a heel prick. Credit: PA

Spinal muscular atrophy is a rare, but treatable, genetic disease affecting approximately 1 in 10,000 births, and it typically presents in infancy and early childhood.

SMA is caused when part of a gene is found to be missing or disrupted. This gene is called survival motor neuron 1, which is important to maintain motor neurons (nerve cells).

SMA progressively, and irreversibly, destroys the nerve cells in the brain and spinal cord, that control movement. This leads to progressive and irreversible muscle weakness.

The conditions can begin within the first 3 months of a child’s life. In children with the most common and severe type of SMA, 95% of all motor neurons can be lost before the age of 6 months.

Most children with this type of SMA, if untreated, will not survive beyond 2 years of age without permanent ventilator support. Children who survive will not be able to sit or walk independently.

It's hoped that this study will establish the feasibility of testing nationwide, and enable early treatments for all newborns found to have the disease.

At the end of the 14 months the data collected will be presented to the UK National Screening Committee, with a decision to be made on whether it should become part of routine testing.

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