|SMA Fact Sheet|
|What is SMA? |
SMA stands for Spinal Muscular Atrophy
SMA is a devastating, genetic disease. It is a leading genetic killer of infants and toddlers, with 50% of the most severely diagnosed cases resulting in death by the age of two. Children with a less severe form of SMA face the prospect of progressive muscle wasting, loss of mobility and motor function. But their minds are unaffected resulting in bright, intelligent children with varying degrees of physical impairment.
There are three types of SMA that affect children:
For information on Adult Onset, or Type IV SMA, please refer to the Jennifer Trust website.
What causes SMA?
SMA is an autosomal recessive disease:
How does SMA work?
In SMA, the absence of the SMN1 gene results in the production of low levels of a protein (SMN) necessary for the survival of motor neurons
How many people have SMA?
In the UK at any one time, between 5,500 and 6,000 people have SMA
What is being done?
Rapid advances have been made since the SMN1 gene was first identified. Treatment pathways are under scrutiny: