What Is SMA?
What is Spinal Muscular Atrophy?
Spinal muscular atrophy (SMA) is a disease that deteriorates physical strength by affecting the motor nerve cells in the spinal cord. This weakening continues to take away the ability to walk, eat, or breathe eventually.
SMA is the number one genetic cause of death for infants. The degenerative neurological disease is caused by a mutation in the survival motor neuron gene 1 (SMN1). In an unaffected person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Without the SMM 1 gene, those nerve cells cannot properly function and eventually die, leading to extremely life-altering and oftentimes fatal muscle weakness.
SMA can affect any race or gender.
In order for a child to be born with Spinal Muscular Atrophy, both parents must be a carrier of SMA.
When both parents are a carrier their child has a
1 in 4 chance of being born affected by SMA
Type of SMA
There were previously four primary types of SMA—1, 2, 3, and 4—based on the age at which symptoms begin and the highest physical milestone achieved. Now that SMA has moved from a disease with no treatment to a disease with treatment opportunities, the type systems are becoming less common as progression is impacted by the age when treatment is started and less likely to follow the life course set out in the types system
Treatments
There are currently three FDA-approved treatments in the United States including Spinraza, Zolgensma and Risdiplam, but only one Health Canada-approved treatment, Spinraza, for those under the age of 12. The SMA community and Love For Lewiston are advocating to have the other two treatments available to Canadian citizens as well.
Individuals with SMA have difficulty performing the basic functions of life, like toileting, eating, drinking, speaking, breathing and swallowing. However, SMA does not affect a person’s ability to think, learn, and build relationships with others. In fact, individuals with SMA are often seen as having high intelligence and problem-solving abilities.
For more information check out www.curesma.org