August 31st, 2023
- Spinal muscular atrophy (SMA) is a progressive, rare, genetic, neuromuscular condition that affects the motor nerve cells in the spinal cord.
- It impacts a person’s physical strength and can affect the ability to crawl, walk, move your limbs, breath, and swallow.
- There are different forms of SMA, which vary in severity and impact they have on a person’s function.
- The main forms of, ‘5q SMA’ includes SMA Types 0, 1, 2, 3 and 4.
- People who have ‘5q SMA’ have two faulty copies of the SMN1 gene. This means they are unable to produce enough SMN protein to have healthy lower motor neurons, which is essential for activating muscles used for movement.
- SMA does not affect a person’s ability to think, learn, and build relationships with others.
- There is no cure for any form of SMA, but since 2016 drug treatments for 5q SMA have gradually been introduced worldwide.
- Early treatment of SMA leads to better outcomes.
- Multidisciplinary approach in combination with disease modifying therapies lead to better response.
- Untreated SMA is the leading genetic cause of infantile death.
- Drug pipeline