Video
Advice to Community Pediatricians Evaluating SMA
Author(s):
Closing thoughts on advice to community pediatricians evaluating a baby for spinal muscular atrophy (SMA).
Diana Castro, MD: Finally, what advice do you have for the community pediatricians who are evaluating hypotonia and suspect spinal muscular atrophy [SMA]?
Garey H. Noritz, MD: The first thing is to recognize it. The way to do that is to pick up a baby and feel they’re floppy in your hands; we see this not infrequently. Most of those children are not going to have spinal muscular atrophy. Many of them will just be a little floppy in early childhood, and that will get better. But some of these children will have something like spinal muscular atrophy. It could be a different disease. It could be muscular dystrophy. It could be cerebral palsy, but they’re not spastic yet.
The first thing we would say to the pediatrician is to recognize it and then check the newborn screen. If you’re in a state where SMA is on the newborn screening panel, that’s great. You can tell with about 95% certainty that the child doesn’t have SMA if they were negative SMA. But nothing is 100%. There are children with SMA that won’t screen positive on the newborn screen. The next thing we would recommend that pediatricians do for a hypotonic baby is check a CK, or creatine kinase, as well as a TSH [thyroid-stimulating hormone] to look for thyroid problems because those will cause floppiness. It’s a cheap and easy blood test to do.
If you do suspect SMA for whatever reason—the appearance of the baby, the appearance of the breathing, lack of reflexes, fasciculations of the tongue—just go ahead and send SMA testing, which is the SMN1 gene deletion. The testing does not require any prior authorization. There are programs available to help get it paid for, and it’s important to get it done as quickly as you can. You don’t have to wait for the diagnosis to come back confirmed to start treating the patient. You can send those blood tests and call or e-mail the neurologist and say, “I’ve got somebody I’m really worried about.” You can get them referred to early intervention, therapy, and other things because even if they don’t have SMA, they probably are still going to need early intervention and other help. There’s no reason to delay those things or delay getting them into the specialist to do the confirmatory tests.
Diana Castro, MD: 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
