Shining a Light on SMA: August is Spinal Muscular Atrophy awareness month

CHESTERFIELD COUNTY, Va. (WRIC) -- Spinal Muscular Atrophy (SMA) is a genetic disease that severely weakens muscles and causes developmental delays. It affects one in 10,000 American babies in the U.S. every year.

As of March 2022, all newborns in Virginia are screened for SMA, allowing doctors to catch the disease before symptoms appear. This early detection is critical for ensuring children can receive timely treatment.

"You are born with this condition. It's not something someone does wrong. It's not something that has to do with the complications of the pregnancy,' said UVA Health pediatric neurologist, Dr. Ryan Kappa.

According to the Virginia Department of Health, more than 170,000 Virginians are carriers of the SMA gene. If both parents are carriers, there is a 25% chance their child will have SMA. The risk of being a carrier also varies by ethnicity:

• 1 in 34 Caucasians are carriers
• 1 in 50 Asian individuals are carriers
• 1 in 65 African Americans are carriers
• 1 in 110 Hispanic individuals are carriers

The newborn screening for SMA is a simple procedure. A small blood sample is taken from the baby's heel to check for the missing SMN1 gene, which is a hallmark of the disease. If the screening is positive, the baby is referred to one of four specialized sites in Virginia for follow-up care.

Chelsea Chambers, a UVA Health neurology genetic counselor, explains that this follow-up includes an appointment with both a neurologist and a genetic counselor. Genetic testing is then done to confirm the diagnosis.

While the screening cannot predict the severity of the disease, it allows doctors to begin treatment as soon as possible. Some people with SMA may not develop symptoms until adulthood. Dr. Kappa estimated that approximately a half-dozen cases of SMA are diagnosed in Virginia each year.

Treatment has come a long way for a disease that was once universally deadly in its most severe form.

"There's a lot more research and clinical trials and things in the medical pipeline that will be commercially available, depending on how well the clinical trials go in the near future," Kappa said.

Carrier testing for Spinal Muscular Atrophy (SMA) is possible even before conception. You don't have to wait until you are pregnant or after the baby is born to find out if you and your partner are carriers. This testing can be done at any time, including before or during pregnancy.

Click here for more information on how to get tested for the gene.