Spinal Muscular Atrophy
What is SMA?
Spinal muscular atrophy (SMA) refers to a group of hereditary diseases that can damage and kill specialized nerve cells in the brain and spinal cord (motor neurons).
About
Most kinds of SMA are caused by a problem with a gene called the SMN1 gene. The gene does not make enough of a protein needed for the motor neurons to work normally. The motor neurons break down and can't send signals to the muscles. A child with SMA gets one copy of the SMN1 gene from each parent.
How we can help SMA babies
Babies show signs of muscle weakness and decreased muscle tone, as well as limited mobility, breathing issues, swallowing, eating and delayed motor skills. We help families to access treatments unavailable on the NHS, as well as therapies, equipment and adaptations that help their child develop.
References:
https://www.ninds.nih.gov/health-information/disorders/spinal-muscular-atrophy
https://www.childrenshospital.org/conditions/spinal-muscular-atrophy-sma
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2,008
Children helped
£1.2 million
Raised in the last year