Cure SMA: Evaluation of SMA in the Era of Telehealth - Episode 8

Hallmark Signs of SMA in Pediatric Patients

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Experts suggest what to look for during a virtual examination during COVID-19 that may suggest a diagnosis of spinal muscular atrophy (SMA). If SMA is suspected, they stress the importance of an evaluation, as soon as possible, with a neurologist.

Diana Castro, MD: We have talked a lot about the physical examination, but I really would like to have a good summary of the things we should definitely look for and try to examine or try to maneuver through the telehealth in these cases.

Garey H. Noritz, MD: It’s a little odd to tell a neurologist what I think you should look for when you’re looking for SMA [spinal muscular atrophy]. But the hallmarks of SMA are being very weak, muscle wasting, absence of deep tendon reflexes, and fasciculations. If you see those things, which are quite rare, they mean that you’re looking at a child with some kind of a motor neuron problem. They’re not all SMA, but SMA is by far the most common thing we’ll see in children.

Most of the kids we see for whom we’re concerned about motor development have SMA, but a lot of them may not have any disease; they are just a little behind and need a little help to get over the hump. We don’t want to just ignore that. Other things that you might see include the bell-shaped chest. You can pull the child up by the arms and see how much head lag there is. When you do that to lots of babies at many ages over long periods of a career, you get a sense of what’s normal. An infant is allowed to have some head lag. That’s normal for a newborn, but that should go away. It’s not a good sign when older kids still have a head lag, so that kind of thing we should be alert for. Often, they also have this posture leg, what we call a frog leg, and that’s a posture of hypotonia, where the legs are splayed out. A typical infant will keep the hips and knees flexed up most of the time.

Diana Castro, MD: We talk a lot about the little ones, but you obviously sometimes end up getting a patient with type 2 or type 3. That would be the same thing in terms of following the development and trying to make sure they’re hitting those right milestones or the milestones on time, right? If the findings of the remote physical examination are suggestive for spinal muscular atrophy, how should providers proceed? What do you recommend to your colleagues?

Garey H. Noritz, MD: Right. SMA is not something to wait and see how it does. That’s something where you really need to put out a red flag and say, “I need some help over here.” As you mentioned, as a neurologist, when you get a referral and it says, “I’m worried about SMA,” you’re going to get that baby in that day or the next day—certainly the next possible time that you can. If you’re not available, you’re going to get a colleague to see the baby, and that’s why it’s so important to know your neurologist and tell them, “This is what I’m worried about.” Rather than just, “I think the child may have a developmental problem,” which is not a red flag. 

You’re going to evaluate lots of children with developmental problems. You’ll get to them as quickly as you can, but there are a lot of them, and typically they’re not such a time-sensitive issue. Usually, what I would do is call a neurologist myself and say, “This is somebody I’m worried about. I hope I’m wrong, but I need you to see them as quickly as you can because they might have SMA or a brain tumor.” Whatever it is that I’m worried about, if it’s something very serious and fast-acting, like SMA or a brain tumor—just to name two—I’m going to say, “Please help me get them evaluated as quickly as possible.”

Diana Castro, MD: I like that you take the time to get on the phone. It’s old school, but it’s the fastest. It’s the best way to try to help these patients right away. I try to give my cell phone number to pretty much everybody to try to have that connection. Sometimes people send a text. We have called, and that has greatly helped in trying to help patients faster. I appreciate that you also take the time to do that.

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