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 updated: July 2019
SMA Types 1, 2 & 3 (5q SMA)
If your child has been diagnosed with SMA Type 1, 2 or 3, then (along with Adult Onset Type 4) this is included in the broader 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
These can be found on our main website under Recently Diagnosed with SMA: www.smauk.org.uk/recently-diagnosed-with-sma
In the Health & Wellbeing section of this website, we refer to the 2017 Standards of Care (SoC) which covers all 5q SMA.
If and when you wish to read it, there’s further information about 5q SMA on our main website, covering what causes SMA, the genetics, symptoms, diagnosis and effects. See here: www.smauk.org.uk/about-sma
Other Rarer Forms Of Childhood Onset SMA (Non-5q SMA)
There are also rarer forms of childhood onset SMA that have different genetic (non-5q SMA) causes. These include:
- 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
In the Health & Wellbeing section of this website, we refer to the 2017 Standards of Care (SoC) for SMA which covers 5q SMA. If your child has been diagnosed with a rarer form of SMA, the guidance in the SoC may not be relevant for you and it’s important to discuss your child's individual care and management with your medical team.
Frustratingly, there is very limited information about rarer forms of SMA, but you may wish to see the section about Rarer Forms of SMA on our website here: www.smauk.org.uk/rarer-forms-of-sma
Other sections of this Living With SMA website will 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.