Symptoms & Effects of 5q Spinal Muscular Atrophy

The ‘Natural History’ of SMA

Before the new drugs for 5q SMA were developed, clinicians studied the effects of SMA on people. This is called the ‘natural history’ of the condition.

This led to 5q SMA being divided into four main Types of SMA: Types 1, 2, 3, and 4. Sometimes a baby is affected before birth; this is called Type 0.

These ‘Types’ of SMA are based on the age that symptoms begin, and what physical milestones (e.g. sitting, standing, walking) are achieved. Clinicians agreed that there could be variation both within and between ‘Types’.

What would the ‘natural history’ of my child’s / my SMA look like?

Most people who have had a diagnosis of SMA will want to know the answer to this question. They will have followed different journeys to getting their diagnosis:

Children, young people and adults will have started to show symptoms. These will have led to tests confirming they have SMA.
A baby may have been diagnosed with SMA because of their symptoms or because they have been part of the Oxford -Thames Valley-Wessex SMA newborn screening study and been diagnosed with SMA.

To try to answer this question, a specialist clinician will examine any child or adult with suspected SMA.

They will also consider: