Disclaimer: This Inside South Florida segment is sponsored by Genentech. All opinions and views are of the advertiser and does not reflect the same of WSFL-TV.
August is Spinal Muscular Atrophy Awareness Month, and a neuromuscular specialist is sharing what patients and families need to know about the rare genetic disease.
Dr. Manisha Korb, a neuromuscular specialist at Palm Beach Neurology, spoke about SMA, its symptoms, and a treatment option now available for patients of all ages. Korb appeared as a paid spokesperson on behalf of Genentech.
"SMA is a rare genetic disease that causes progressive muscle weakness in the body, and that can vary widely from person to person," Korb said.
In infants, the disease can cause trouble with breathing and swallowing, as well as delays in meeting motor milestones like sitting, crawling, and standing. When SMA presents later in childhood or adolescence, patients may initially meet those milestones but lose those abilities over time, including the ability to walk.
Korb emphasized that SMA does not affect a person's cognitive abilities or relationships.
"One thing I want to mention that it does not do is affect a person's ability to think, or to learn, or to have meaningful relationships," Korb said. "It's considered a motor disease."
Korb also discussed Evrysdi, describing it as the first orally prescribed medication FDA-approved for all ages — infants, children, and adults. It is available as a liquid or tablet, with the tablet form available for patients ages 2 and older who weigh more than 44 pounds.
"The way it works is by helping increase the protein that would otherwise be deficient in the person's body, and it helps sustain the health of those muscles throughout the body so that they can slow down disease progression, stabilize it, and in some cases, even get stronger," Korb said.
For families navigating a new diagnosis, Korb offered this message:
"The biggest piece of hope is that this is a disease that you're born with and you carry lifelong, but it doesn't have to define you or limit you in everything that you do," Korb said.
Korb encouraged patients and families to speak with their health care providers and visit Evrysdi.com for more information.
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