This guide is about the standards of care (SoC) for the most common form of spinal muscular atrophy (SMA), called 5q SMA (see Section on Genetics and Diagnosis). It is for both adults and young people who have 5q SMA and for parents and caregivers of children who have 5q SMA. Its aim is to give information about what care they may expect to receive, so that they can have active discussions with their medical team about how to best manage the condition, including possible options and choices.
The information and advice given is not intended to replace the services of your healthcare provider. If you are an adult who has SMA you should consult your healthcare provider about all matters relating to your health. Similarly, if you are a parent/carer reading this, you should consult your child’s healthcare provider about all matters relating to their health, involving your child in discussions if age appropriate.
It may be helpful to have a copy of this guide to hand if at any time you needsupport from, or are having discussions with medical professionals who are not familiar with SMA. If you are a young person reading this guide it might be helpful to read it with someone who is familiar with the condition, such as your parent, carer or medical expert.
What is SMA?
Spinal Muscular Atrophy (SMA) is a rare, genetically inherited neuromuscular condition. It causes progressive muscle weakness and loss of movement due to muscle wasting (atrophy). This may affect crawling and walking ability, breathing and swallowing, and arm, hand, head and neck movement. There are different forms of SMA and a wide spectrum of how severely children, young people and adults are affected. The more common forms of SMA are broadly known as ‘5q SMA’ and are often further described as a ‘type’ of SMA (see ‘How to use this guide’).
The group were aware that countries have different levels of resources so made recommendations based on the minimal care and support that anyone with SMA should recieve wherever they live.