Video Explains Faulty Gene in SMA

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by Wendy Henderson |

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Approximately 1 in 10,000 newborns are affected by spinal muscular atrophy (SMA), a condition that results in muscle wasting and severely impaired mobility.

Meet the Kingsley family and 6-year-old Brett who was diagnosed with spinal muscular atrophy (SMA) type 1 when he was just a baby.

In this Roche video shared in August 2014, computer generated graphics explain the relevance of motor neuron cells and survival motor neuron proteins (SMN proteins) in spinal muscular atrophy, showing what happens when the SMN2 gene is defective.

The video includes encouraging research by Roche, in partnership with PTC Therapeutics and the SMA Foundation, that is aimed at repairing the defective SMN2 gene in laboratory animal tests.

Dr. Bob Leshner, a pediatric neurologist, and neuromuscular clinician provides an introduction to SMA here.

SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.