Everyone Matters Ambassador Cashel wants every human being to know we are important and everyone is perfect. Please view for yourself – like and share and help us spread Cashel’s message. The video was directed by Brian Weidling and edited by Kyle Johnston with music by Derrik Balogh.
Spinal Muscular Atrophy (SMA) is caused by a change in the SMN1 gene, which results in reduced levels of a protein known as Survival Motor Neuron (SMN). The SMN protein is important to the survival of nerve cells in the spinal cord responsible for muscle contraction. When these protein levels are reduced, the muscles do not function correctly and become weaker and smaller (“atrophy”).
Children with SMA generally appear normal at birth. Symptoms typically develop as early as a few months after birth. A diagnosis of SMA is confirmed by a genetic test to identify a mutation in the SMN1 gene.