Screening for Spinal Muscular Atrophy starts today

From 1 October 2026, babies across England will start to be screened for spinal muscular atrophy (SMA), a rare but serious genetic condition that affects 1 in 10,000 children.

Newborn babies are already screened for several serious conditions through the newborn blood spot test when they are five days old. SMA will be added to the test as part of a phased rollout.

This will take place in two stages, with seven newborn screening laboratories introducing screening between 1st October 2026 and October 2027. The remaining six laboratories will follow from October 2027 with the intention of achieving full rollout by spring 2028.

Our new Rapid SMA genetic test launches today

A new rapid genetic test which has been designed and developed by scientists at the South East Genomic Medicine Service launches today.

The new genetic test will confirm a diagnosis of SMA within 48 hours enabling babies to have the best possible chance of successful treatment.

SMA Type 1 is a progressive neuromuscular condition which is why early diagnosis is so important. This new rapid genetic test will enable babies to be diagnosed significantly earlier meaning they can have treatment as quickly as possible.

What is SMA?

Spinal Muscular Atrophy is a severe and progressive neuromuscular disorder which is caused by genetic mutations or deletions to the SMN1 gene.

There are several different types of SMA, and everyone is affected differently. The most common type is 5q SMA which includes SMA Types 1,2, 3 and 4. Symptoms are often seen in children from an early age when they appear to be ‘floppy’ with muscle weakness. They can have difficulty sitting up and crawling and often find breathing or swallowing a challenge.

Type 1 SMA is typically seen in children at a very early age and without treatment they are unlikely to live beyond two years of age.  However, symptoms are seen at later stages of a child’s development in type 2, type 3 and type 4. Type 4 SMA might start in people over 18 for example.

What causes SMA?

SMA is a recessive disorder, which means that most children with SMA have inherited an SMN1 gene mistake from both of their parents. Parents of children with SMA are usually completely healthy – this is because although they usually have a mistake in one copy of their SMN1 gene, their second SMN1 gene is normal.

If both parents have an SMN1 gene mistake, there’s a:

• 1 in 4 (25%) chance their child will have SMA
• 2 in 4 (50%) chance their child will carry the altered gene, but will not have SMA
• 1 in 4 (25%) chance their child will not carry the altered gene or have SMA

What treatment is available for SMA?

Treatment for SMA has transformed in recent years. Although there is no cure, there are now several options available that can stop further deterioration.

Clare Galtrey, Consultant Adult Neurologist and SMA expert at St. George’s Hospital adds,

“For many many years a diagnosis of SMA would be devastating for a family. However, that’s all changed. Amazingly, we now have new and remarkable treatments available. Speed is of the essence, so if a child can get a genetic test done quickly then treatment can start almost immediately. These two things combined can transform the future for these children and their families.”

Current treatments can’t reverse symptoms which is why early diagnosis makes a huge difference.

There are currently three main treatment options for SMA:

• Nusinersen targets a specific gene to produce extra amounts of the SMN protein that is known to be lacking in people with SMA.
• Risdiplam targets a specific gene to produce extra amounts of the SMN protein that is known to be lacking in people with SMA.
• Zolgensma, a gene therapy only available for patients with Type 1 SMA. It’s a one off treatment that delivers a working copy of the SMN1 gene into the patient, which enables the body to replace the faulty gene.

There is a wealth of information about treatment options on the SMA UK website.