August Is Spinal Muscular Atrophy Awareness Month
Category: Spine | Author: Stefano Sinicropi
August is spinal muscular atrophy (SMA) month, so we wanted to share a little information about this genetic condition. Spinal muscular atrophy is a condition that affects the motor nerve cells in your spinal cord. This progressive condition slowly robs a person of the ability to walk, eat and even breath. According to infant care statistics, SMA is the leading genetic cause of death in infants.
SMA Causes and Onset
SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). When healthy, this gene produces a protein known as the survival motor neuron protein or simply the SMN protein. This protein plays a crucial role in the normal functioning of nerves that control our muscles. Without the protein, those nerve cells can’t perform their normal functions and eventually die as a result. This nerve loss eventually leads to debilitating and often fatal muscle weakness.
Although about 1 in 50 Americans are a genetic carrier for the condition, the onset of the condition is much rarer. Approximately 1 in 10,000 babies are affected by SMA, but that number is still much higher than we would like. Thankfully, there’s good reason to think that rate will decline in the near future. Between the development of effective therapies, new medical breakthroughs that can strengthen our children’s bodies and progressive drug therapy, researchers believe a cure or at least better treatment isn’t far down the road.
Spinal Muscular Atrophy
This isn’t the first time we’ve written about spinal muscular atrophy on our blog. A few months ago we discussed the four different types of spinal muscular atrophy that can affect a person. Type 1 is the most serious and has the earliest onset, while higher types often come with more mild symptoms. For more information on the types of SMA and how they affect a person, head on over to that blog.
As you might expect, treatment of the condition isn’t always easy because it is based in our genes. As a spine care provider, with mild cases of SMA, the goal is to prevent the spine from curving due to weakened muscle support, as this can sometimes lead to scoliosis or disc issues. As for a cure, researchers are working on developing drugs that can mimic the protein produced by the survival motor neuron gene 1.
