Cure SMA: Evaluation of SMA in the Era of Telehealth - Episode 3

Signs and Symptoms of SMA


Screening of newborns for spinal muscular atrophy (SMA) has been implemented in 33 states. The signs and symptoms leading a pediatrician to a diagnosis of SMA are discussed.

Diana Castro, MD: Hello, and thank you for joining this HCPLive® Cure Connections® program titled “Cure SMA: Evaluation of SMA in the Era of Telehealth.” We’re going to discuss the diagnosis of SMA [spinal muscular atrophy], including the virtual visits that have been happening because of the COVID-19 [coronavirus disease 2019] situation.

I am Dr Diana Castro. I’m a pediatric neurologist at Children’s Health at UT [The University of Texas] Southwestern Medical Center in Dallas, Texas. Joining me is Dr Garey Noritz, a pediatrician from Nationwide Children’s Hospital in Columbus, Ohio.

Thank you so much for joining us. Let’s begin. Dr Noritz, I’m going to start asking you some questions, and the first is related to the screening of newborns for SMA. First, how is the newborn screening in states implemented? How many states are implemented already, if you can tell us a little about that?

Garey H. Noritz, MD: It’s really exciting that over the last year or so, many states have started screening for SMA as part of their newborn screen. I believe 33 states have newborn screening available as part of their mandatory newborn screen. It’s very exciting to be able to identify children with this disease before they even show any clinical signs of the disease.

Diana Castro, MD: That’s great. That’s something we definitely need to get these patients diagnosed much earlier and, hopefully, treated earlier. In your practice as a pediatrician, what things get you to start thinking SMA is a possibility? What are the signs and symptoms that we have to keep in mind? I know you guys are very busy. You see many patients during the day, so what things will be helpful?

Garey H. Noritz, MD: SMA is one of those things that’s pretty rare. You’re not super likely to come across it, especially if you’re not prepared to recognize it when you see it. But it’s one of the things we think about when babies and young children are weak and floppy and have delayed motor milestones. In the worst cases, they have trouble breathing and feeding as infants. Parents or grandparents who have experience with previous children, will say, “My baby seems floppy. They seem like a rag doll.” 

It’s really important for pediatricians to listen to parents when they have concerns and also do a pretty thorough—but it doesn't have to be very fast—neurological and neuromotor exam. The most important part of that is picking up the baby and feeling whether this child feels like all the other babies you see who are that baby’s age: if they feel very loose and very floppy or if they feel very tight, which will make you think of other kinds of disorders. But for SMA, the thing we really see is the floppy baby. They’re usually very awake, interactive, and happy yet floppy. Then there are more neurological signs that we’ll look for once we have recognized that.

Diana Castro, MD: Something I tell my residents and my fellows is about when you open the door and you have this beautiful baby looking around at everything. They are absorbing the whole world. But you look down, and the body does not correspond to the face because the face has so much expression and life, but their body is low tone and weak, as you said. That’s key for me. Sometimes I open the door and I know from far away, unfortunately. I’ve seen that a lot. 

Garey H. Noritz, MD: There’s something about this disease—every child is beautiful. Every child is beautiful, but I have never seen a child with SMA who wasn’t a beautiful child. I think it has to do with the facial expression.

Diana Castro, MD: Exactly. That’s very helpful.

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