Tests can be carried out to check if you or your child has spinal muscular atrophy (SMA), or if you're at risk of having a child with the condition.

Tests before getting pregnant

Speak to a GP if you're planning a pregnancy and:

The GP may refer you for genetic counselling to help you understand the risk of your child having SMA. You can have a genetic test to see if you have the faulty gene linked to the condition.

If you're at risk of having a child with SMA, talk to your genetic counsellor about your options.

These may include:

Tests during pregnancy

If you're pregnant and there's a risk you could have a child with SMA, tests can be carried out to check for the condition.

The 2 main tests are:

Both these tests can slightly increase your chances of a miscarriage.

If tests show your baby is likely to have SMA, talk to your doctor about what this means and what your options are.

Tests after birth

If you or your child has typical symptoms of SMA, a genetic blood test can be done to confirm the condition.

You may also be asked if anyone in your family has a condition that affect their nerves and muscles.

A physical examination may be done to look for signs of SMA or similar conditions.

Very occasionally, other tests may be needed, too. For example:

The charity Spinal Muscular Atrophy UK provides more information and advice if your child has recently been diagnosed with SMA.

Page last reviewed: 4 May 2020
Next review due: 4 May 2023