Melanie Cole, MS (Host): Welcome to Back to Health, your source for the latest in health, wellness and medical care, keeping you informed so you can make informed healthcare choices for yourself and your whole family. Back to Health features conversations about trending health topics and medical breakthroughs from our team of world-renowned physicians at Weill Cornell Medicine.

I'm your host, Melanie Cole. And joining me today is Dr. Andrea Yoo. She's an Assistant Professor of Clinical Neurology at Weill Cornell Medicine, and she's here to highlight dystonia awareness for us today. Dr. Yu, it's a pleasure to have you join us. Please tell us a little bit what dystonia is, the different types, how common it is. Tell us about this condition.

Dr Andrea Yoo: Hi, Melanie. Thank you for having me on the podcast today. So, dystonia as a broad category is a very heterogeneous group of neurologic disorders that is primarily characterized by involuntary muscle contractions. These muscle contractions can cause many different types of abnormal movements, such as repetitive twisting, jerking, shaking, or if these muscle contractions are sustained, they could also cause abnormal posturing and positions of the body.

There are many different types of dystonia affecting various parts of the body. More commonly, dystonia is focal or isolated to affecting one specific area of the body, such as the neck, the arm, the face. But generalized dystonia can also occur affecting multiple body parts. Dystonia can be the primary or main disorder, or it can be a symptom within a larger spectrum of another disease or due to another underlying cause.

For example, you can have dystonia symptoms as a result of strokes, brain injuries, certain medication exposures, infections, inflammation, et cetera. The prevalence or how common dystonia is, is a little difficult to pinpoint overall due to all the different causes, but it's estimated that dystonia can affect up to 1% of the population or currently about 250,000 people in the United States.

Melanie Cole, MS: Wow. And when you say secondary as part of another disorder, you're talking like Parkinson's and things, right? Just for the listeners to understand.

Dr Andrea Yoo: Yes, that's correct. You could have Parkinson's disease as your main disorder, but have dystonia as one of the symptoms of your Parkinson's disease.

Melanie Cole, MS: So then, who would be at risk for this movement disorder? Is it similar in risk to people that are at risk for MS or Parkinson's or another movement disorder condition or, on its own, are there separate different risks?

Dr Andrea Yoo: So, dystonia, because it is so varied, could affect people of all ages ranging from infancy to late adulthood. The age of onset of your symptoms actually helps us as the doctors narrow down the presumed etiology or the cause of the dystonia. So, most primary dystonias are what we call idiopathic, or there isn't a known underlying genetic or other cause of your dystonia. And these primary dystonias are more likely to happen in adults, and they tend to be more localized, or focal, or in one or two areas of the body, and without a known genetic cause.

If your dystonia symptoms happen to occur at younger age of onset, such as in childhood or adolescence, or you have a more generalized dystonia, it is more likely to have a genetic or inherited cause. There are a couple of different genes known to cause dystonia, with more being identified every day. But your genetic risk of dystonia varies between your history, your ancestry and based on population risk.

Melanie Cole, MS: Are there signs and symptoms if this is the first part as its own standalone disorder or part of another one then in which case you're kind of thinking about this as movement disorder conditions go? But if it's primary, are there signs and symptoms? Is there something that would start and send us to a doctor in the first place?

Dr Andrea Yoo: So, dystonia presents in many ways, so not everyone will have all the exact same signs and symptoms. But typically, you may notice a repetitive muscle spasm that occurs predictably in a specific area. As I was mentioning before, such as the neck, you could have it in the arms or legs or even in the face. For example, you could have frequent blinking or eye closures, and that could be a sign of a dystonia as well. You might notice that these muscle spasms are exacerbated by stress or brought out by certain activities such as hand cramping when you're writing. The muscle spasms can look a little different between people. They could present as pulling or tightness. You could have some twisting, jerking, shaking movements or you could just have an abnormal posturing. For example, if your toes are curled up, if your hands are cramped up, that could present as dystonia too. Dystonia can even present as voice changes depending on what muscles are affected. So, you could get a sense that there is a wide range of presentations for dystonia. But at the core, it's repetitive muscle spasms that are involuntary,

Melanie Cole, MS: If somebody's got these, they probably would start with their primary care provider, yes? Would they go straight to a neurologist? Who would they see? And then, I'd like you to get into some of the treatment options available.

Dr Andrea Yoo: Obviously, primary care doctor is probably where most people will start. You know, most people don't have neurologists in their back pockets anyways. But if you suspect someone has a dystonia, the best place to be evaluated would be in a movement disorders center. Obviously, those of us who are in the New York Presbyterian Weill Cornell medical system have access to movement disorders neurologists. But for those who may not have access to movement disorders or don't know where to start, you can get a referral for a general neurologist too. A general neurologist may not be familiar with treating dystonia, per se. But they could be an avenue for the initial diagnosis or further referrals for movement disorders neurologists.

Going to treatments, there are several medications that are currently available for treatment of dystonia, and these are generally targeting muscle relaxation. You might have heard of some medications called Artane, Baclofen, Valium. But at the core, they're all for muscle relaxation. For those who might have a more focal or localized symptom for their dystonia, they may be a candidate for botulinum toxin or more commonly known as Botox injections. And Botox happens to be a great form of treatment for dystonia. You essentially target the specific muscle groups that have the abnormal overactive contractions with the Botox. So if you are interested in an evaluation for potential Botox injections, our movement disorders physicians are skilled and trained at administering different types of Botox. And Botox is just one brand, but there are many different types of botulinum toxin injections that you can get.

Melanie Cole, MS: Is there some point, Dr. Yu, that surgical interventions are discussed? And if so, what are some of those options?

Dr Andrea Yoo: Yes. For those who've tried different types of medications and had inadequate relief of their symptoms, or for those who might have a very severe symptomatic presentation of their dystonia, often in the setting of generalized dystonia where multiple body parts are affected, surgical intervention remains an option.

The main surgical procedure currently available for dystonia is called deep brain stimulation, or often referred to as DBS. So, DBS is a surgery where electrode wires are implanted into the brain with an external sort of connection to a battery pack that looks similar to a pacemaker device. So, these internal electrodes emit electrical stimulation that help "rewire" the brain circuitry that's involved in dystonia. So, a specially trained movement disorders physician can adjust the settings on a patient's DBS device, which essentially controls how much stimulation you're getting, and this helps quiet or reduce your dystonia symptoms. Our neurosurgery colleagues at Weill Cornell are trained in the DBS surgery procedure and work really closely with our movement disorders group here to choose the appropriate candidates for surgery.

Melanie Cole, MS: It's fascinating. Really an exciting time in your field. Dr. Yu, I'd like you to wrap up and offer your best advice for people that have dystonia as primary or as part of another movement disorder condition. Give us your best advice and what you'd like them to know and take forward from this episode.

Dr Andrea Yoo: So, my advice for anyone with or caring for someone with dystonia is to remain optimistic and also be proactive. Dystonia, unfortunately, is an under-recognized and under-treated disorder, so don't feel discouraged if you're not getting the answers you were looking for right away. Although sometimes it may feel like it, you are not alone. So, there are many resources for patients and caregivers from groups such as the Dystonia Medical Research Foundation or the Dystonia Coalition. These resources can give you a lot of tips, but also a lot of help on how to manage dystonia and be a part of a bigger group. There's still a lot we don't know about dystonia, but it is an exciting time where there's many trials and ongoing research that can hopefully shape the future of dystonia and give us some more answers.

Melanie Cole, MS: Thank you so much, Dr. Yu, for this very informative episode. And Weill Cornell Medicine continues to see our patients in person as well as through video visits, and you can be confident of the safety of your appointments at Weill Cornell Medicine. That concludes today's episode of Back to Health. We'd like to invite our audience to download, subscribe, rate, and review Back to Health on Apple Podcasts, Spotify and Google Podcasts.

For more health tips, you can always visit weillcornell.org and search podcasts. And parents, definitely don't forget to check out our Kids health Cast, so many great podcasts there. I'm Melanie Cole. Thanks so much for joining us today.

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