antenatal and newborn screening programme

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Spinal muscular atrophy

Spinal muscular atrophy (SMA) is a genetic disease. It causes muscle weakness and a progressive loss of movement. There is no cure but therapy and support are available to help manage the condition.

Read more about SMA on the NHS website.

UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in October 2018.

Screening is not currently recommended for this condition.

Screening for SMA was not recommended by the UK NSC because:

• there was not evidence to show how effective a screening programme would be
• the best way to support people who receive positive results was not known
• there was no evidence for effective treatments for people who do not show symptoms of SMA
• the long term effects of a new treatment called nusinersen which can improve symptoms in children with SMA were unknown
• there was no evidence on the effectiveness of nusinersen in children without symptoms
• the evidence on how well the test for SMA performs was limited
• there was not enough information about the total number of people affected by SMA

At its June 2023 meeting, the UK NSC endorsed a 2-pronged approach to review the case for newborn screening for SMA again, by:

• developing a new comprehensive and flexible cost effectiveness modelling study for screening for the UK screening context
• starting to plan an in-service evaluation (ISE) of screening for SMA in real world NHS services

Supporting documents from the 2018 review

Evidence summary SMA (2018)
This document provides the evidence on which the current UK NSC recommendation is based.

UK NSC coversheet & consultation responses SMA (2018)
This document summarises the review process including the public consultation comments.

Review cycle

Date previous review completed: 2018

Next review estimated to be completed: 2025 to 2026.

To see previous evidence reviews, visit the UK NSC archive.

Organisations interested in Spinal muscular atrophy

These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.

List of organisations

• ArchAngel MLD Trust
• Faculty of Public Health
• Muscular Dystrophy UK
• Royal College of General Practitioners
• Royal College of Paediatrics and Child Health
• Royal College of Physicians
• Royal College of Physicians and Surgeons of Glasgow
• Royal College of Physicians of Edinburgh
• Scottish Muscle Network
• Spinal Muscular Atrophy Support UK
• The British Society for Human Genetics

If you think your organisation should be added, please contact us.