Spinal Muscular Atrophy, or SMA, is the severest form of motor neuron disease.
What is SMA?
It is a neurodegenerative condition characterised by the deterioration of the spinal cord motor neurons (anterior horn cells) that send messages to the muscules of the trunk, extremeties and internal organs. As the spinal nerves atrophy, the muscles and organs relying on these messages lose their effectiveness, as they don't receive the information needed to enable them to work properly. Eventually these muscles have reduced function, or cease to function at all.
The muscle groups most affected are those of the trunk and neck responsible for posture, those of the arms and legs responsible for movement, and those around the ribs which assist breathing. Normal brain and social development is unaffected, and children with the condition are often unusually bright.
How do you get SMA?
SMA is an inherited genetic disorder so children are born with the disease, which is rarely detectable during pregnancy. Up to 1 in 40 people carry the gene responsible for the condition and each pregnancy of two carriers of the disease has a 25% chance of the child being SMA affected. The condition occurs in around 1:6000 births. Most often, parents have never heard of SMA until their child is diagosed. They are usually unaware of their carrier status and are unlikely to be aware of a family history.
What is the impact of SMA?
There are four main types, Types 1, II, III and IV. Severity of the condition and lifespan depends on the Type of SMA a person has. Type 1 is the most severe and affects infants, who are fortunate if they celebrate their second birthday. In contrast, adults with Type IV are likely to have a normal lifespan, albeit with mobility, and possibly other, SMA related problems.
SMA has a devastating effect on the lifespan, health and mobility of children with the condition, but the ripple effect for family and friends is equally signfiicant, with concern and grief for a child who is unlikely to reach their full potential.
Treatment
At present there is no known cure for the disease. Funds are much needed for research, symptom prevention and management, equipment, and support for respite or activities for those living with the disease. Considerable reserach is being conducted in the US, although some studies are being planned in Australia.
The Womens' and Childrens' Hospital, and partners such as Novita, are key providers of services to children with SMA in South Australia.
Your support of South Australian children with SMA, and their families, is greatly appreciated!
For further information about SMA go to the Links page.