The UK NSC recommendation on Spinal Muscular Atrophy

Recommendation Systematic population screening programme not recommended
Last review completed December 2013
Next review due in 2016/17
Key downloads

A national screening programme for Spinal muscular atrophy is not recommended in either adults or pregnant women.


Find general information about population health screening.

Why is screening not recommended by UK NSC?

 A review found that:

  • There is not enough information about the total number of people affected and how many people are affected by each type of SMA.
  • The test aims to identify people at higher risk of having children with SMA (who have a defect in a particular gene that affects movement). The evidence did not show a clear agreement about how the laboratories should use the test to identify people at risk from the general population.
  • The test for spinal muscular atrophy cannot determine whether children at risk of SMA are likely to be severely or very mildly affected by the condition.
  • As the test is not reliable it may not help people make decisions about whether to have children and it will be difficult for health professionals to offer advice. 
  • It is not clear whether people would want to have the test. 

More about SMA

Spinal muscular atrophy (SMA) is a genetic disease that causes muscle weakness and a progressive loss of movement. There are four types of SMA that vary in terms of the age those sufferers develop symptoms and also the severity of the symptoms they can have. There is no cure but therapy and support are available to help manage the condition.

SMA causes the motor neurones in a certain area of the spinal cord to deteriorate. This can result in progressive muscle wasting and loss of ability to move parts of the body. SMA is rare, with an estimated 5,500 to 6,000 people with SMA at any one time in the UK.

>>Read more about SMA on NHS Choices


The British Society for Human Genetics
The Jennifer Trust for SMA
Muscular Dystrophy Campaign
Royal College of Paediatrics and Child Health
SMA Trust

The stakeholder groups will be involved when the recommendation is next reviewed. If you think your organisation should be added, please contact us. More information for stakeholders can be found in appendix C of the UK NSC evidence review process.

More options

Go to top