antenatal and newborn screening programme
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
Screening for SMA is not recommended by the UK NSC. This is because:
- there is not evidence to show how effective a screening programme would be
- the best way to support people who receive positive results is not known
- there is 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 are unknown
- there is no evidence on the effectiveness of nusinersen in children without symptoms
- the evidence on how well the test for SMA performs is limited
- there is not enough information about the total number of people affected by SMA
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.
Date previous review completed: 2018
Next review estimated to be completed: 2021 to 2022.
To see previous evidence reviews, visit the UK NSC archive.
Organisations interested in SMA
These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.
List of organisations
- 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.