Receiving a diagnosis of SMA often comes as a shock and can be very difficult for everyone involved. There’s a lot of information and it can be difficult to know where to begin. Sections in this website won’t all be relevant for you at this time, but may become more so in the future; they’re designed to be dipped into as and when needed.
SMA is the name given to a number of genetically distinct conditions which all result in muscle weakness, but there’s great variation in the severity and impact they have. The more common forms of SMA are broadly known as 5q SMA, because of their genetic cause.
Page last reviewed August 2021
Next review due August 2022
SMA Types 1, 2 & 3 (5q SMA)
SMA Types 1, 2 and 3, (along with Adult Onset Type 4) are included in the broader clinical classification of 5q SMA.
The following guides and booklets aim to be a helpful starting point:
- Looking after your child who has SMA Type 1
- Looking after your child who has SMA Type 2
- Looking after your child who has SMA Type 3
The care and management of children is outlined in the user-friendly Guide to the 2017 Standards of Care (SoC) which was published in 2019 and covers all 5q SMA.
There’s also further information about 5q SMA covering what causes SMA, the genetics, symptoms, diagnosis and effects on these pages.
Other Rarer Forms Of Childhood Onset SMA (Non-5q SMA)
There are rarer forms of childhood onset SMA that have different genetic (non-5q SMA) causes. Frustratingly, there is very limited information about rarer forms of SMA. We have gathered what we can about the following conditions:
- Distal SMA
- SMA with Lower Extremity Predominance (SMA-LED)
- SMA with Progressive Myoclonic Epilepsy (SMA-PME)
- SMA with Respiratory Distress 1 (SMARD1)
- X-linked SMA
If your child has been diagnosed with a rarer form of SMA, the guidance in the 2019 user friendly Guide to the 2017 Standards of Care for SMA may not be relevant for you as this focuses on 5qSMA so it’s important to discuss your child's individual care and management with your medical team.
Other sections of this Living With SMA website may well be relevant for you and your child and, we hope, may provide some useful information and ideas for day-to-day living. If you’re at all unsure if something’s relevant for you, we suggest you discuss it with a healthcare or other professional such as a physiotherapist, occupational therapist (OT), education or social worker who is supporting you and your child.