Advancements in Dystonia Treatments | Congress 2023

[00:00:38] Dr. Mark Edwards: So we're hoping it's gonna be a really interactive session. I'm gonna give a general introduction about phenomenology and pathophysiology and a little bit about treatment. Steve Frucht, who's a great expert in this area, is going to talk about treatment, particularly around a new trial of botulinum toxin. And we're gonna also hear from Mr. Boullet about his experience from being a [00:01:00] pianist and doing rehabilitation specifically in people with musicians dystonia. And then we're gonna have some interactive cases as well. So hopefully the whole session will be educational, but also one where there's opportunity to ask questions, because this topic of focal task specific dystonia is one where ... it's pretty mysterious as the title would suggest. It's the mysterious disorder of motor control, and I think we've all got a lot to learn from each other. 

[00:01:26] Dr. Sarah Camargos: Is there any innovation in the treatment of this particular form of dystonia?

[00:01:32] Dr. Mark Edwards: So, I think there is, but there's a lot of work to do. There's also a lot of work to do in actually how you construct services for what's a relatively rare condition, but one where the people that you're seeing this is their life, typically. So if you take a professional musician or some professional athletes, if you take this thing away from them, that's it.

So they need a different approach than would usually be taken for people [00:02:00] with some other movement disorders. But I think there are innovations. So there's innovations in understanding more about the pathophysiology, moving from just thinking about this in the normal pathophysiology of dystonia to something which has got its own pathophysiology, even if it's somehow linked to dystonia in general. And then thinking about treatment, particularly retraining. So how do you actually do it, and how might you integrate botulinum toxin treatment into retraining as part of a package? 

[00:02:32] Dr. Sarah Camargos: Is there a room for neuromodulation in this field?

[00:02:35] Dr. Mark Edwards: Potentially, but I think it's quite a blunt tool in some ways. If we're talking about non-invasive, neuromodulation, say with repetitive TMS, or things like that, there has been interest in neuromodulation from a surgical point of view, and that's followed on from pioneering work from Japan, from Mr. Taira who's done a lot of thalamotomies for people with task specific [00:03:00] dystonia, and it's reported really dramatically successful results. And I think working at who's appropriate for that technique or whether focus ultrasound or whether a deep brain simulation has an additional role to thalamotomy, and how that fits into the whole thing of retraining and botulinum toxin, as well as actually prevention of this. So how do you help music educators, musical conservatoires, et cetera., How do you help them keep their students safe? How do orchestras, for example, keep their professional players safe from developing these problems? 

[00:03:35] Dr. Sarah Camargos: Maybe there is a genetic signature on these people as well.

[00:03:40] Dr. Mark Edwards: Yeah. I mean, Christine Klein published many years ago now, a sort of candidate risk gene for the development of task specific dystonia. I'm not aware of work that's happened since then, but then there has to be a genetic component. But it's about, you know, 0.5 to 1% of professional musicians.

But[00:04:00] there is clearly something about the years of practice, the type of practice, and various other factors that seem to make people at risk, as well as probably a genetic component, too. 

[00:04:10] Dr. Sarah Camargos: Yeah. Definitely some environmental with genetics, maybe. Do you, for the differentials, for example, for functional dystonia or dystonic tremor or task-specific tremors, do you see any thing in the field for the diagnosis , any instrument?

[00:04:34] Dr. Mark Edwards: That's a good, it's a good question. I think that the first thing is for people to remain aware that there are lots of potential reasons why, for example, a professional musician might have a problem with motor control, and it doesn't always have to be task specific dystonia. So that spans the spectrum from sort of motor block, which you can often see as part of performance anxiety, through to the [00:05:00] development of a more typical neurological disease. But the person, because they've got such attention to the precision of their motor control, they notice things very, very early.

So I've seen that, for example, in people developing Parkinson's disease who are professional musicians and they notice their problems sometimes incredibly early because they just pick up a little bit of subtle difference. And then through into other diagnoses like functional dystonia. There's an interesting question about whether tasks specific tremor and task specific dystonic posturing are the same thing, or are they different?

I tend to think they're probably much the same thing. But there's an open question there. So I think these things bring into play how it's a really fascinating area of movement disorders where there's lots and lots to work out. 

[00:05:48] Dr. Sarah Camargos: Especially because there's some place of cerebellum in this game, right?

[00:05:55] Dr. Mark Edwards: I'm sure there must be. I mean, there's, there's a whole complicated interaction [00:06:00] between the task itself. So for example, it's not, generally all musicians who develop this. So for example, guitarists, piano players seem particularly sensitive to this. Maybe it's much more common in classical musicians compared to jazz musicians, although that goes across both.

So something about the task, there's something about the, the periphery. So often people are over practicing. That's a risk. People who develop a peripheral injury have have a higher risk of developing these sorts of problems. And then there's the central nervous system as well and factors like the cerebellum, and then there's the emotional side of things as well.

So the extent to which there's anxiety, there's abnormal attentional focus on practice. So there's lots of parts of this, which may be a bit different in different people. But all of those are likely to be relevant to kind of triggering this off.

[00:06:52] Dr. Sarah Camargos: Very interesting. And for the future, what do you think about? 

[00:06:58] Dr. Mark Edwards: So personally I would [00:07:00] love it if in every country there was a specialist service for people who have these sorts of problems. So, for performing artists in particular, because it's very hard for the demands of their particular profession to interface with normal healthcare.

And they do need specialist expertise and some speed as well. To get diagnosis quickly and get into the right path in terms of treatment. So, you know, it's difficult because there's lots of different priorities in healthcare, and this is a small group of people. It's true. 

[00:07:33] Dr. Sarah Camargos: Indeed. 

[00:07:33] Dr. Mark Edwards: But it is something which is a treatable problem and what I think for a lot of people if we had got people early and got 'em the right access to treatment.

[00:07:42] Dr. Sarah Camargos: Perfect. Many thanks for your time, professor Edwards. It was very nice to talk to you. 

Thank you very much for having me. [00:08:00]