What is spinal muscular atrophy? This Telegraph.com article has the answer.
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| Image Source: telegraph.co.uk |
Spinal muscular atrophy (SMA) is a genetic neuromuscular disease that limits a person’s physical abilities, such as moving, walking and breathing, but does not affect their mental development.
The condition is inherited from parents and affects the nerves that control muscle function.
According to the SMA Trust, a charity dedicated to finding a cure, the progressive wasting of muscles can lead to skeletal deformities, breathing problems and difficulties in eating and drinking.
There are three types of SMA that affect children, which range in severity. Sufferers of SMA Type 1 – the most common form – are unlikely to reach their second birthday, so it is thought Ben, Max and Olivia had SMA Type 2.
Children are usually diagnosed with SMA Type 2 under the age of two, and are able to sit up unaided at some point in their lives, but will not stand or walk unaided.
As they grow older, those with the condition develop an abnormal curvature of the spine as the surrounding muscles become weaker, and there is also a risk of fatal respiratory problems.
Most people with Type 2 SMA are expected to live into their teenage years.
Type 3 is the mildest of the three forms, and while sufferers experience breathing and swallowing difficulties, it does not usually affect life expectancy. One in 40 people is an SMA carrier, which is approximately 1.5 million people in the UK, and one in every 6,000 births is affected by the condition, according to the SMA Trust.
SMA is an autosomal recessive neuromuscular disease, meaning two genes, inherited through both parents, are needed in order to have the disease. When two SMA carriers have a child together, there is a 50 per cent chance that the child will be a SMA carrier. When two SMA carriers have a child together there is a 25 per cent chance that the child will have inherited both defective SMN1 genes and will develop SMA.
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