WHAT IS SMA?
SMA, or Spinal Muscular Atrophy, is a neuromuscular disease, specifically classified as a motor neuron disease. Those with the disease are missing the SMN1 gene or have a damaged SMN1 gene, and are genetically unable to produce enough SMN (Spinal Motor Neuron) protein, which is a protein that keeps spinal motor neurons alive and functioning. Spinal motor neurons are the cells that send signals to the muscle fibers in the body. Without enough SMN protein, the neurons gradually die off, and the person loses the ability to use the muscles they were attached to. The muscles weaken and "atrophy."
Humans have "backup" SMN2 genes that also produce SMN protein if the SMN1 gene is missing or damaged (if the person has SMA.) The number of SMN2 genes a person has and the amount of protein they can produce dictates the severity of the disease. SMA has been classified into types: Type 1 is the most severe, and Type 4 is the least. Those with many copies of the SMN2 gene can live well into adulthood before symptoms even start, and they are classified as Type 4. Statistics say that those diagnosed with Type 1 before the age of two have only a 50% chance of making it to the age of two, as most of their muscles, including their lungs, will be severely weakened.
There is much more to learn about SMA, and the national FSMA website has this information: http://www.fsma.org
We joined the Families of Spinal Muscular Atrophy (FSMA) - New England Chapter and became the members of the
FSMA Connecticut Chapter
Our extended Family are an amazing group of people:
There is No Known Cure at this time, but there is a great deal of research being performed to help find a cure for SMA.
Jim Gaudreau: "Let's bring the research forward and catch up to that ugly monster we all dislike....SMA! WE CAN DO THIS!!! WE CAN MAKE SMA, A HISTORICAL FACT!!! The recent partnerships and project announcements are positive proof that we have SMA on the run, and we are CATCHING UP! Watch out SMA.... HERE WE COME!!!"
Jonathan Goldsberry: "If there isn't a cure for SMA in the next ten years, many of us in the community believe that there will at least be a successful treatment for it soon. There are a number of researchers making amazing discoveries every month, and there are so many more important discoveries just over the horizon."