Cure SMA: Evaluation of SMA in the Era of Telehealth - Episode 5

Urgency for Early Diagnosis and Treatment in SMA


Targeting early recognition of spinal muscular atrophy (SMA) and referral to a neurologist is emphasized.

Diana Castro, MD: Obviously, early recognition is extremely important. This is one of the reasons we do this program. We want to create that awareness. What is the importance of early recognition and referral to a neurologist for further evaluation and diagnosis?

Garey H. Noritz, MD: SMA [spinal muscular atrophy] is a special case because over the last several years, we have developed treatments that really change the course of the disease. One thing we know for sure is that those treatments work better the earlier we start them. Right now, there are three approved drugs for SMA. When we are able to start treating children who are presymptomatic (which we can do in states that have newborn screening) or early symptomatic (which we can do when we have very astute families and pediatricians recognizing that there are problems), the outcomes are better than when we wait a bit to see if the child is going to catch up and don’t get them into therapy as quickly as we can. 

Even before there were treatments, we always wanted to make diagnoses quickly because there are things we can do, even though they’re not direct treatments for the disease of SMA. There are respiratory systems and nutritional things that we want to do. It’s very important for families to find out what it is that their children have, understand it, start to learn about it, and connect with other families who have the same thing. We never want a delay.

In my practice, we have newborn screening. We’re in Columbus, Ohio, which is in the middle of Ohio. The nearer parts of West Virginia come to our center for care. They do not have newborn screening in West Virginia. So we very clearly have a dichotomy of children who were found presymptomatically and were treated with one of the therapies very early vs children who were discovered once they clearly started being weak, were having trouble breathing, and were not meeting their motor milestones. The outcomes are vastly different. I know that West Virginia and other states will get newborn screening before too long, but it’s a very stark difference right now.

Diana Castro, MD: It’s so important for people to understand that weeks count. It’s not about months. Weeks count. As neurologists, if we get a referral, and I see that referral has SMA or concerns of SMA, it’s an emergency. I get that patient in the next day because it’s that important. We really need to make people aware of all the options we have in terms of therapies. SMA has this presymptomatic time, but then it has a really acute duration. After the presymptomatic time, we don’t have much time before you’re going to have a rapid decrement in terms of all function—not only muscles but motor function and so on. So it is very important.

Dr Noritz, thank you so much. It was a very interesting conversation. Thank you for watching this HCPLive® Cure Connections® program. If you’re enjoying the content, please subscribe to our e-newsletter to receive upcoming programs and other great content in your inbox. Thank you so much.

Garey H. Noritz, MD: Thank you.

Transcript Edited for Clarity