Crystal Proud, MD: When I’m examining a patient and evaluating for signs of spinal muscular atrophy [SMA], or when re-examining a patient whom I have already assessed in person in clinic and are now transitioning to telehealth, I like to make sure that I have a wide enough field of view of the patient to be able to assess the right motor characteristics.

I typically start in the face, so if you could, I’d like you to move the camera a little closer to Hannah’s face to start with. That’s lovely, Miss Hannah. We’re going to start with checking some of the muscles in your face, and I’m going to mimic what I’d like for you to do so that you know exactly what I’m talking about. The first thing I’m going to ask you to do is to look into the camera and squeeze your eyes closed super tight. What I can see is that Hannah is able to squeeze her eyes closed with good strength, and she’s able to bury her eyelashes in the folds. This indicates good strength of the muscles around her eyes. Thank you, Hannah. You can open your eyes.

Next, I’d like for you to keep your chin very still and look all the way over toward Dad. Great. And now look all the way over toward Mom, and then all the way up toward the ceiling. Wonderful. You can look back at me. We have good extraocular movements. Your eyes move in all of the directions that they should. Some of my patients have limitations of their eye movements, so this allows me to take a look at that. The next thing I want to do is check the strength of the muscles around your lips, so I’m going to have you do what I call a cheek puffing maneuver. Can you do this for me? You’re very strong in those cheek muscles and lip muscles, because you’re able to seal all of that air inside of your cheeks without letting it escape. That’s wonderful.

Can you stick your tongue out? Excellent. Can you hold it out there for a moment for me? What I notice is that you’re able to stick your tongue out past your lower lip border. Can you raise it up a little for me? Great. I can see that you have good tongue muscle bulk. Nice job. There’s a little of what we call scalloping on the edges, so the sides of your tongue are a little thinner than the central area, which is very typical of patients of mine who have spinal muscular atrophy. If we look really close, we can see some little twitching movements that we call fasciculations of the tongue. You have very good projection of your tongue out of your mouth. Some of my patients with SMA can’t get their tongue as far out of their mouth as you can. You have very good strength there. I’m very pleased to see that.

Let’s check some of the sounds that the muscles in your mouth make. First, we’re going to check the muscles around the lips by saying a MAH-MAH-MAH sound.

Hannah: MAH-MAH-MAH.

Crystal Proud, MD: Wonderful. Next, can you say LA-LA-LA?

Hannah: LA-LA-LA.

Crystal Proud, MD: That’s checking the lingual sounds. Can you say GA-GA-GA?

Hannah: GA-GA-GA.

Crystal Proud, MD: Perfect. That’s checking those very back muscles back here, and we call those guttural sounds. Those all sound like very good vocal production to me. Next, we’re going to have you pull the camera back so we can see that torso view again. Hannah, are you right-handed or left-handed?

Hannah: I’m right-handed.

Crystal Proud, MD: You’re right-handed. Can you show me how far up that right arm can go?

Hannah: My side support is going to get in the way.

Crystal Proud, MD: Perfect. Now we have a nice view. Excellent. Can you hold it there for a second? I know that’s hard. Nice work. You can rest it down. I’m going to have you do it again in just a moment, but what I’ll comment is that for our friends who have spinal muscular atrophy, it takes a little extra effort on the part of some of these shoulder muscles for you to get the arm into the air. You do a nice job of getting to about shoulder level on this side. That’s what I would put in my notes, and it’s what I’ve put in previous notes of yours, that Hannah can abduct her right arm to about shoulder level. Try that again for me. Awesome. And you can rest it down. Perfect. If I’m wondering whether somebody can touch their face or head, sometimes I’ll ask them to do that. Can you show me if you can touch the side of your head with that right arm? Excellent. And you can rest it down. Perfect.

Are you able to get that right hand into the field view of the camera like this? Nice job. Hannah, what I’m seeing is just a very faint tremor. You can rest your hand down now. Nice job. That tremor has a fancy name that we’ve talked about in clinic before. It’s called polyminimyoclonus, and it’s a characteristic of patients who have SMA. It is a normal thing to have if you have SMA. It’s not dangerous or bad, but it indicates that the nerves are sending different signals to the muscles, so it can be a clue to a doctor who’s looking to diagnose somebody with SMA.

Can you show me the left arm? How high up can we get that left arm? Wow, that’s fantastic. That’s stronger than I’ve seen you in the past. I’m noticing that you’re getting that left arm up. In my note, if I were documenting, I’d say that the left arm abducts not quite to shoulder level. You’re stronger on your right side, but you’re still very strong and antigravity in that left arm as well.

Miss Hannah, can you show me some toe wiggling? Can you wiggle your toes for me? Excellent. Can you lift your ankles up and down? Great. We’ve got some good toe wiggling, some ankle dorsiflexion, and some ankle plantarflexion. How much can you kick your legs out at the knees? There you go. Excellent job. And how about the other side? Nice work, Hannah. Fantastic. That’s great. We’ve got a bit of kicking out at the knees, a little ankle dorsiflexion and plantarflexion, and some toe wiggling intact. Nice job, Hannah.

In summary, if I were performing an assessment and describing what I was seeing in your physical exam that I was observing over the computer, I’d say that I see what’s called proximal greater than distal muscular weakness. Then I’d provide some of the details that we just talked about so that I could create a reference for myself and do some comparison in the future, especially in the context of us pursuing treatment, so that I can note whether I think that there are any changes.

The only other thing that I will sometimes do for patients when I’m pursuing telehealth assessments is sometimes we’ll have you do some functional skills for us. You have beautifully shown us how your arm is antigravity. For some of my friends who are perhaps a little weaker in their arms, if they can’t raise their arms up, I may focus on their hands and see if I can detect some small movements of their fingers, or if they can hold a pencil or a coin, or some other finer, smaller movements that might take a little more manipulation to be able to assess over the computer. Thank you, Miss Hannah, for showing us your exam details on telehealth.

Hannah: You’re welcome.

Transcript edited for clarity.