Maggie McKay (Host): Welcome to UK HealthCast, a podcast presented by UK Healthcare. I'm your host, Maggie McKay. Joining us today is Dr. Neil Toupin, a Child Neurologist, to tell us about Duchenne Muscular Dystrophy, what providers should look for, how to treat it, how it's different from other muscular dystrophies and more.

Thank you so much for being here.

Neil Toupin, MD: Thank you for having me.

Host: For listeners who may not see DMD often, can you give us a quick overview? What is Duchenne and what sets it apart from other muscular dystrophies?

Neil Toupin, MD: So Duchenne muscular dystrophy, which predominantly affects boys, it's a disorder of the DMD gene, which is involved in muscle growth and repair. DMD is different from other muscular dystrophies, number one, in that it mainly affects boys, but number two in that it's quite severe and you can see elevated CK levels over time.

So this is evidence of muscle breakdown that you can see in those CK values, which can range from thousands to tens of thousands, which is really distinctive. And so if you come across that, it's almost certainly Duchenne.

Host: And what are some of the early red flags in a typical well child visit that might suggest something more than just a delay? What might suggest DMD over other developmental delays?

Neil Toupin, MD: So Duchenne is typically associated with a loss of strength over time, as opposed to patients who may just be a little bit weaker but not losing strength. So any patient who's losing strength, is definitely a red flag. The other thing is loss of motor milestones. So if a patient is losing milestone that they had previously attained, then that is, is certainly a red flag.

And then a final red flag for neuromuscular disorders generally is a loss of reflexes. So patellar reflexes, if those are not present; all those things should clue you in on a neuromuscular disorder and Duchenne in particular, the ages that it happens, so typically you'll see it present around age four and five with difficulty getting off the ground, enlarged calves, toe walking. Those things should all point you towards DMD.

Host: And what are the signs that should trigger a referral to a specialist?

Neil Toupin, MD: So anytime that you see a patient who has a loss of a milestone, be it motor or other developmental milestone, that should prompt a referral. Absolutely. Urgently. But any patient who seems weaker or not keeping up with their peers, having excessive muscle cramps or pain, all of those, should be seen by a neurologist just to make sure that there's no condition like DMD that could potentially be treated.

Host: And Dr. Toupin, what can referring providers do in that early window before diagnosis is confirmed to support the family?

Neil Toupin, MD: One thing that you can do is check the CK level, like I mentioned before. If it's extremely high, then the diagnosis is probable that it's the Duchenne Muscular Dystrophy. The other thing that you can do for families though is just tell them that is a lot out there.

Okay. There's a lot of support. Even if this is the diagnosis, even if this is a bad diagnosis, there's a lot of treatments, there's a lot of support, and that they're not alone. And then just make sure that you're listening to them. A lot of these families are quite anxious, may have additional questions.

Just be available to talk to them in the days that it takes before they get seen one of us.

Host: And if a child at UK Healthcare is diagnosed with DMD, what does the care team typically look like and who's involved?

Neil Toupin, MD: The multidisciplinary care team here at UK we have neurologists, therapists, psychologists. All the other specialists they would need; endocrinologists, pulmonologists, cardiologists, all in a two day clinic. And we also have a nurse navigator who helps coordinate the clinics for the families. So we have a really robust care team here at UK that does a great job of for these patients and their families and really do what we can to make it easier on them, less of a burden to come to visits, to make it more accessible and to interfere less with their daily lives.

Host: That's gotta be reassuring to parents to have such a wide variety of physicians in it. It sounds like it takes a team of experts across fields to provide the scope of care for DMD kids. So how do you keep primary care, physical therapy, cardiac care and mental health providers all looped in as the patient's care evolves?

Neil Toupin, MD: The primary care doctor is, is still a very essential piece of this care team. And even though they're seeing all these specialists, the primary care doctors plays a very important role, and so we try to communicate with the primary care doctor after their multidisciplinary visits, which typically happen about twice a year.

And so our nurse coordinator will prepare a summary document that the patients will get, but also the providers should get as well. So they're kept in the loop about what's going on. Also for therapists, our physical therapist, often reaches out to the local physical therapist so that they know what the things are that we expect for this child at this stage of the disease and what are the things that they could be working on to help this kid.

So we try to communicate well. And then you mentioned mental health providers too. We have a psychologist and social worker who work with the patients and the families. And we're happy to again, communicate with their regular providers, to make sure everyone stays on the same page.

Host: That sounds so helpful. It seems like you guys have all the bases covered. There's been a lot of talk about gene therapy and new treatments in the pipeline. What should referring providers know about the future of DMD Care?

Neil Toupin, MD: There are a large number of treatments that are available and a growing number of treatments that are making a tremendous difference in this disease. It used to be that only steroids were offered and they had unfortunately, a lot of side effects and only some benefit. But now there are different types of steroids that have fewer side effects or different side effect profiles that may be better for that specific patient.

There are also excellent skipping treatments, which can prolong muscle strength. There's, what are called histone deacetylase inhibitors, which when combined with steroids, make a huge difference in prolonging strength and ambulation and, function. And then there's gene therapy, which is a bit controversial at the moment with things that are going on with the currently available product.

But, even beyond that product, there's a lot of things in the pipeline for gene therapy that may make a tremendous difference in the long-term outcomes of these children, as far as their strength and their function. And there's also some other treatments in the pipeline that can work specifically on cardiac function and bone health that are very promising. So, it's a really exciting time in Duchenne, but also a quite complicated treatment landscape. So these are things that we will help the families navigate, throughout their visits with us.

Host: So if you could give every primary care provider one takeaway when it comes to Duchenne, what would it be?

Neil Toupin, MD: There's a motto in Duchenne and it's developmental delay check a CK and I think that's a great motto to think about when you're practicing, because Duchenne can not only present with motor weakness, but can also present with language deficits, speech deficits, cognitive deficits, even before the motor symptoms present.

And so if you see a 2, 3-year-old with delays, check a CK. You may catch Duchenne even before they have those motor symptoms, which can result in earlier referrals and earlier treatments, which can affect the long-term course.

Host: Is there anything else you'd like to add in closing?

Neil Toupin, MD: Also, I'd just like to say that it's not the disease that you learned about in medical school. There is a lot we can offer these patients. The future is bright. There are patients living into adulthood, living very fulfilling lives. And so it is not the doom and gloom diagnosis that it once was before. And we have a great team here at UK who can help.

Host: Well, that is so good to hear. Thank you for shedding some light on this very important topic. This has been so educational and we appreciate your time and sharing your expertise.

Neil Toupin, MD: Thank you. I appreciate being here.

Host: Again, that's Dr. Neil Toupin. To learn more, please visit UKhealthcare.uky.edu/kentucky-neuroscience-institute, or just UKhealthcare.uky.edu. And if you found this podcast helpful, please share it on your social channels and check out our entire podcast library for topics of interest to you. I'm Maggie McKay.

Thanks for listening to UK HealthCast, a podcast from UK Healthcare.