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Learning More About the Faulty Gene in SMA


Approximately one in 10,000 newborns is affected by spinal muscular atrophy (SMA), a condition that results in muscle deterioration and impaired mobility.

Here are eight notable people who have spinal muscular atrophy.

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 animals.

Long-term exercise was found to benefit mice models of spinal muscular atrophy (SMA), providing important clues for designing rehabilitation programs in patients.

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.

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  1. LOUIS COWAN says:

    Exceptional explanation of what SMA is and how it affects an individual with SMA….I am waiting further information regarding NUSENERSIN drug to combat SMA-LED…(lower extremity dominant)…..PLEASE HELP!!!

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