Spinal Muscular Atrophy (SMA) is a genetically inherited neuromuscular condition, which gets worse as time progresses. The condition causes muscle wasting (atrophy), leading to weakness and problems with movement. There is currently no cure for SMA but a range of treatments and support are available to help improve quality of life.
It is estimated that 1 in every 40-60 people carry the faulty gene which causes SMA. In the majority of cases, a child is only born with SMA if both of their parents carry the faulty gene. Although the parents usually do not have SMA themselves, there's a 50% chance that the child will carry the gene but also not have SMA. If both parents carry the gene, there's a 25% chance that their child will have SMA, there's also a 25% chance that they will neither have SMA or be a carrier.
There are several different forms of SMA but the most common is known as '5q SMA'. The condition is considered to be a spectrum disorder as SMA affects children in adults with different levels of severity. 5q SMA is generally split into four different 'types'.
- Type 1 is the most severe type and develops in babies under 6 months of age. Babies with this type rarely survive for more than a few years due to serious breathing difficulties.
- Type 2 appears in babies between 7-18 months old and is lower in severity than type 1. Most children with this type of SMA survive into adulthood.
- Type 3 develops in babies after the age of 18 months. It is the least severe type that affects children.
- Type 4 affects adults and usually causes mild symptoms. Neither type 3 or type 4 usually affect life expectancy.
Typical symptoms of SMA include:
- Weak and/or floppy limbs (hypotonia)
- Problems with movement such as difficulty in walking, crawling and sitting up
- Shaking and/or twitching in the muscles (tremors)
- Various problems with the joints and bones, including scoliosis (unusual curvature of the spine)
- Difficulties with breathing and/or swallowing
- SMA does NOT cause learning disabilities or affect intelligence
Wearing specialist Sensory Dynamic Orthosis (SDO®) garments like those designed and manufactured by Jobskin® can help people with SMA manage the symptoms caused by the condition. For more information about our dynamic compression garments, please contact the expert clinical team here at Jobskin®. You can also visit the website of the charity Spinal Muscular Atrophy UK for support.
NB - information in this article taken from https://www.nhs.uk/conditions/spinal-muscular-atrophy-sma/ and https://smauk.org.uk/