Spinal Muscular Atrophy FAQ

Spinal Muscular Atrophy (SMA) is a genetic disorder which are all around us. As a result of the disorder, the nerve tissues in the spinal cord are not able to carry signals from the brain to other organs of the body. This results in loss of muscle movement causing problems in breathing and swallowing. Typically, those afflicted are unable to walk on their own. Unfortunately, there is no known cure for SMA and many people suffer from the disorder throughout their entire lives. However, treatments can be used to ensure that patients are able to lead long and healthy lives.

The genetic disorder Spinal Muscular Atrophy (SMA) is a rare condition that can be handed down through generations. One faulty gene comes from the mother, and another takes its form as part of the father’s DNA blueprint for offspring to inherit. Carriers don’t develop SMA, but there is a 1 in 4 chance that two carriers will have a child with SMA. It is due to defects in the SMN1 gene, which codes for a protein called Survival Motor Neuron. SMA affects approximately 1 in 8000 births, and it comes in different forms depending on age of onset and severity.

When our muscles become weak or atrophied over time, they are no longer able to support the spine properly. This eventually affects all of your body’s other muscle groups as they try compensate for this problem. This often leads to more damage. SMA is progressive, and the more muscle groups that are affected, the more significant your symptoms can become.

Type 1 (severe):
Werdnig-Hoffman disease, or SMA type 1, affects about 60% of people with SMA. Symptoms typically present either at birth or within 6 months after birth.

Type 2 (intermediate):
The initial indicators of type 2 SMA (Dubowitz disease) usually show up when a child is between 6 to 18 months old.

Type 3 (mild):
The symptoms of type 3 SMA (otherwise known as Kugelbert-Welander or juvenile-onset SMA) will present themselves after a child reaches 18 months old.

Type 4 (adult):
This uncommon form of SMA appears in adults and generally presents in the mid-30s.

SMA is a serious and complex disease that can affect people of all ages. It is a genetic condition that is caused by mutations in certain genes, making it an inherited disease. If you or your partner carry one of these mutated genes, there is an increased risk that your child could also have SMA. But because there is often a long gap between when parents carry the mutated gene and when their child develops SMA, it can be difficult to predict who will develop the disease.

Although there are many advances in research and science around SMA, the numbers of affected people worldwide are too few to get the resources and research that are required to prevent and treat this disease. But work does continue slowly, and gene and disease modifying therapies continue to give hope. And you can be a part of that. Through the Max Brault SMA Foundation, you can help to support research and new and emerging treatments.