The Art of Overcoming: Liz Nugent on Storytelling and Dystonia

Episode Transcript

Dr. Correa:
From the American Academy of Neurology. I'm Dr. Daniel Correa.

Dr. Peters:
And I am Dr. Katy Peters, and this is The Brain and Life Podcast.

Dr. Correa:
I'm so glad you're joining us again on the Brain and Life Podcast. Now, I wanted to catch up again with Katy, and we're looking forward to introducing this week's episode. But I wanted to start off first with some of the things we do when we're stepping away from the hospital and the work that we do. Katy, when you're not reading the latest updates in brain cancer research or recent articles from the Brain and Life Magazine and website, what's your preferred reading genre? Do you get into the scary, spooky mysteries, or something else?

Dr. Peters:
Well, I'm actually a fan of nonfiction at the present moment, and I'm actually leaning that way recently. I'm reading about the Basque culture right now, and I hope it'll inspire me to go to that part of Europe that's wedged in France between France and Spain. And because I like nonfiction, if I'm going towards watching Netflix or Apple TV or Prime or any of those other streaming services, I'm now watching more documentaries, and I have a list that I want to enjoy this weekend. How about you?

Dr. Correa:
Oh, I mean, that sounds fun, and it's one of my favorite trips that I did with my wife was actually visiting the Basque Country, so.

Dr. Peters:
Oh, I'm so jealous.

Dr. Correa:
I'm jealous in thinking of all that food right now as I'm hungry myself. So I tend to read, I like to help me manage stress, I read books about meditation. And I also, when I do read novels, I really like to get into stories that are very imaginative and puts me in a whole world and environment. Often for me that's a little bit more towards science fiction, rather than mysteries and spooky context or scary novels.
But our guest today is an author who actually writes mysteries and scary novels. Many of you may know several of them. One of them Lying in Wait is a story that centers on a young woman's murder and how it impacts through families. Another, Unraveling Oliver, follows this guy who seems to be perfect, but then a dark secret is revealed after a violent crime. And you'll hear more about it as we talk with her. But the other aspect is all of her life, she's been living with dystonia after a brain injury and how she manages and incorporates that not only in her day-to-day life and taking care of herself and being with her family, but in some ways how it has affected how she thinks about characters and people. So, I really hope you enjoy this episode. And we'll hear from both her and then a medical expert, Dr. Alfonso Fasano from University of Toronto about his experience helping support those who are living with dystonia.
Welcome back to the Brain and Life Podcast. So this week, we're bringing you another artist, but maybe not a musician or visual artists like we've had before, and not an athlete necessarily. But today's guest is an internationally best-selling award-winning author, Liz Nugent. She's known for her dark, compelling, psychological thrillers like Unraveling Oliver, Strange Sally Diamond, and Little Cruelties, if you've had a chance to catch any of those. Now, her writing has captivated readers with its razor-sharp insight into complexities of human relationships and behavior. But beyond the page, Liz brings a powerful and personal story of living with dystonia and has been an outspoken advocate of awareness, resilience, and visibility for others living with chronic conditions and disability. Liz, we're honored to have you here with us today.

Liz Nugent:
Thank you so much for inviting me, it's a delight to be here.

Dr. Correa:
So you're joining from Ireland today, thank you for your flexibility. It's always fun that these internet and podcast experiences get to connect us with people all around the world.
I wanted to learn more about the start of your career, and when I was catching up and learning more about you, it wasn't just in the writing. Your career started creatively in theater and television. Was there something about visual performance spaces that drew you to the stage and screen?

Liz Nugent:
I think when I was in school, I wanted to do drama and theater studies when I left school, but that was a really small course at the time. It was only offered by one college, Trinity College Dublin, and there was only 15 places. And you had to get a very high level of grades to get in there, you had to be a straight A student pretty much to get in. And I felt that school had given up on me or I had given up on school because of my dystonia, I couldn't write with my right hand.
So I had had to, sometime around the age of 11 or 12, my left hand would take the pen from my right hand, and I began to write upside down with my left hand. And then eventually over the course of a number of years, I started to write the right way, but with my left hand, so, but I was always slow. So by the time I was 15 or 16, I knew that I would never be able to finish an exam paper. So I kind of gave up in school at that point and school gave up on me. I went but I wasn't present, shall we say. So, there was really no hope of me getting into that college course I wanted to do.
So it was only, I went off to London and I worked in various admin jobs as an office junior and I worked in a hospital giving out death certificates in the death certificate office. I worked in an estate agent's office. I worked in lots of jobs until I had a further accident, which was massively complicated by dystonia. And that led to me being on and off a year or two in the hospital. And it was when I was in hospital all that time thinking about, what do you really want to do? What do you really want to do? And I decided then that I wanted to be an actress.
So I went to drama school, it was a private drama school. I had saved up all of the illness benefit and everything I had minded up, so I had the money to go. So I went to this drama school and then I came out of it and I just realized, who is going to hire an actress with a limp? Because I, as well as my right hand not being fully useful, I walked with a limp on my right-hand side. It was hemidystonia, so it's my right-hand side that was affected. So I just started working as a stage manager in theater, and I eventually and worked my way up from profit share shows or internships as you call them, like jobs where you don't get paid to-

Dr. Correa:
Yeah, profit share being a misnomer.

Liz Nugent:
Yeah, no profit to share. And then I worked my way up to production stage manager on Riverdance, and I toured all over America and Canada and the far East and so it was a pretty big, responsible job by the time I was 30. And then from there, I went to working on TV behind the stage, backstage on TV, again, working as a story associate on a soap opera and working on a sitcom as a production coordinator. And all of these things circling around the area that I wanted to be in, circling around the writing, but not really doing the writing.
So eventually, I was so miserable in a job. I was working on a soap opera and I was so miserable doing that job because I was technically administrative staff, so I wasn't allowed to come up with stories. And I was so frustrated by it that eventually I asked them, could I take a leave of absence? And they said yes. And in those, before that, I had written my first book, Unraveling Oliver, and I'd also written some, an animation series for an Irish language TV station. I'd written a pilot for a TV series for the European Broadcasting Union. I had written an animation series also for an Irish language station. I'd done a lot, but nothing that would allow me to leave my job.
And I remember going to my doctor and just being really miserable and really miss, well, really down. He said, "Well, I've known you all my life," and he has, but he said, "I can give you antidepressants, but you need to quit that job." So my doctor prescribed that I leave the job and that's what I did, and began to write full-time for myself.

Dr. Correa:
Wow.

Liz Nugent:
Never looked back.

Dr. Correa:
Yeah, I mean, it sounds like from very early on, as you said, even in school, you had this internalized sense that you couldn't express yourself creatively through writing.

Liz Nugent:
Yeah, that I wanted to express myself in some way, and I thought originally it was through acting, but then realized that playing Laura in The Glass Menagerie was a once in a lifetime thing, and I would age out of that part very quickly. That was about it for me as an actress. So yeah, I worked backstage. And following the script very carefully and then worked on Riverdance, which is unscripted, it's a dance show. I'm watching people dance and knowing that I could never be a dancer. And it was kind of being cruel to myself in a way, looking after these 100 dancers and cast and crew and knowing that I could never do it.
So eventually, came back to Ireland, came back to TV land, and yeah, wound up in a miserable job on a soap opera where you were kind of told what to write and you had to use a certain number of characters. And I was on the admin side of it anyway, so I wasn't really allowed to offer, and I had loads of ideas for stories for characters, but I wasn't allowed to offer them. And so that was really frustrating and I'm really glad my doctor was so clued in that he prescribed that I quit my job.

Dr. Correa:
Well, and I'm many readers are too. Now, you mentioned early on in life that you had an injury that then later led to some of the challenges with dystonia. Can you share with us a little more about that?

Liz Nugent:
When I was six years old, I used to slide down the balusters at home and be told constantly, "Don't do that. It's too dangerous. Don't do that, it's dangerous." And one day, I did it again and I fell over, I vaulted to get onto the balusters, and I fell on my head on my brother's tricycle in the hall and suffered an extradural hematoma and I was taken to hospital. At that time in Ireland, the children's hospital didn't have a CAT scan machine. We're talking kind of mid-'70s, early '70s. So I was then moved to my uncle who was a GP, general practitioner, came to see me in the hospital. He was over from London, and he said, "This girl needs a CAT scan. I think she's having a brain hemorrhage."
So I was moved to the adult hospital and I ended up being the only child in the adult hospital who got a CAT scan that confirmed I had an extradural hematoma. So I was sort of in and out of coma, and then when I came out of hospital, they had drilled holes in my brain to release the pressure. And I don't quite remember exactly what happened, but I remember when I came out of hospital, the first thing I noticed was my hand. My right hand would take up awkward positions, like it would curl in behind me, behind my back, it would curl upwards behind my back, or my fingers would contract and go into spasm. And it wasn't particularly painful at that time, it was just the posturing in my right hand was very awkward.
And then I had just learned to write. So when I went back to school, I think I was out of school for about two months, and when I went back to school, I couldn't write. Every time I took the pencil in my hand, I would tear through the paper because my right hand would go into spasm holding the pencil. And that became a real battle, I had two or three years of physiotherapy trying to release the spasm in that hand, and none of it worked, just didn't work. And so I was writing, but really badly with my right hand for a long time.
And then gradually my left hand, it's amazing what the human brain can do. My left hand would take the pen from my right hand and write what I wanted to write, but originally when I started doing it, it was upside down. The writing was upside down. And gradually then over a number of years, it corrected itself so that I could write the right way up with my left hand, but I was very slow.

Dr. Correa:
And do you feel like you remember just at those times, sometimes feeling frustrated with your right hand and purposely using your left hand, or it was just kind of like your brain was just trying to find a way of doing it and tried it once and it just worked?

Liz Nugent:
No, I wasn't really conscious of it. It was a gradual thing, but I wasn't conscious of it. I was far more conscious of my leg, like my right leg then started to drag behind my body as I was walking. And then my right foot turned inwards and my little toes curled up, and that became really difficult and walking became hard. And so, I was having physiotherapy. I was taken out of school two afternoons a week to go for physiotherapy in the rehab hospital here. And that was pretty grim, I have to say. Yeah, tough and grim, and none of it really worked.
So, at one stage during that time when I was about 12, an orthopedic surgeon, I was seen by an orthopedic surgeon because at this stage, dystonia hadn't entered the picture, nobody had mentioned the word dystonia. I was seen by an orthopedic surgeon and he decided he would do what was called a soft tissue release operation on my calf muscle. Now, I believe it's an operation that isn't done anymore, but at the time he thought this was the right thing to do. And I just remembered the pain after that operation and being in a plastic cast after that operation was absolutely excruciating. And when I came out of that operation and out of that plastic cast, my right foot was turned right, so like it was 2:00. My feet is at 2:00 instead of 12:00 at all times, and that never corrected itself.
And so, if we move on to when I was 20, I was living in London working for a construction company as a buyer buying building supplies and I fell and dislocated my kneecap. And because of the dystonia, the spasms were so extreme, I was just screaming and screaming and screaming. And they put the kneecap back into place and they put a plaster cast around it, but it dislocated again within the plaster cast. And this time, the plaster cast was holding it out of place, so they couldn't fix it until they took the plaster cast off, which was about two hours later. And that was two hours of me screaming my head off in very, very acute pain.
And I ended up back in Ireland under the care of the same orthopedic surgeon who did a soft tissue release, it was like history repeating itself, on my Achilles muscle tendon, and that left me screaming in pain. And eventually, I think I was an embarrassment to that doctor. And he said to me, "If you go to," I was 20 years old at this stage, so I was over 18, I was able to sign myself in and out of wherever. But he said to me, "If you go to the psychiatric unit, they have better painkillers there. They'll be able to take better care of you there."

Dr. Correa:
Wow.

Liz Nugent:
And I swear to God, if he had said, "If you go to the zoo, they have better painkillers there," I would've happily gone to the monkey enclosure in the zoo. I was in so much pain, so I just said, "Yes, absolutely." Signed myself into the psychiatric unit, and then was asked things, meetings with psychiatrists. Now the painkillers were better because I was getting diazepam and clonazepam and all these muscle relaxant tablets that I hadn't been getting in the orthopedic hospital, but I was getting them there and in sufficient quantities that the pain did go away a bit and I wasn't screaming anymore.
But while I was there, a nurse came on the rota who had just come off a neurological rota, she had been in the neurological ward before she had been moved to the psychiatric ward. And she kind of looked at me and she asked Dr. Michael Hutchinson, a very eminent, retired now neurologist, if he would come down and take a look at me. And he came down and within 10 minutes diagnosed dystonia, had me moved up to his ward, started treating me, started trying out all the drugs on me, and eventually Botox at the age of whatever, 20. I can tell you now that my right leg doesn't look any younger than my left leg, but it worked for a long time until it didn't.

Dr. Correa:
So many twists and painful turns for you along that way.

Liz Nugent:
Yeah.

Dr. Correa:
Do you think there were any points, I know that for some people, depending on where their dystonia is, that they have moments that people can't see, even if it's for brief amounts of movement in their arm or in their speech or with their walking, that no one notices it. And then when it comes out, do you think that variability or something is something that confuses and adds to misunderstanding in the community? Did you ever have that experience or just since you had it so young, you never really had time without it?

Liz Nugent:
Yeah, I don't really remember a time without it, to be honest. And because I walked with a limp, it would've been obvious to everybody that there was something wrong, but nobody noticed that I was now writing with my left hand or when I start in office jobs, nobody had noticed that I only typed it my left hand. And now I'm writing books using one hand and people are going, "Oh, it's amazing," but it's not so amazing really, when you think that Shakespeare wrote his entire works with one hand on a quill. We didn't have a spell check or anything like that. So, I don't think it's that big a deal to type with one hand. A lot of people write, type with one finger or two fingers or whatever. We all have our ways around it. If there's a story in you, it has to work its way out.
But the Botox worked for a couple of years, and then I developed antibodies to it, and then it stopped working. And then the spasms, they were kind of stable for a long time. And then I hit 50 and menopause, and I asked my neurologist, "Has there been any studies done?" He looked like, it sounds like a ridiculous question, but I said, "Has there been any studies done on dystonia and menopause?" And he looked at me kind of sheepishly and said, "I don't think so." And because my symptoms were getting worse, they were getting definitely much worse.
And then I had another accident when I was 50. In 2019, I tripped going into a friend's house and I dislocated my kneecap and broke my tibia again. And this time when I arrived in the emergency room, I just said, "I need a neurologist. Don't give me an orthopedic surgeon. Don't let the orthopedist near me. I need a neurologist, need a neurologist." And I asked for all of the neurologists I knew, Sean O'Riordan, Niall Tubridy, all of the Michael Hutchinson, any neurologist I could think of. I asked for those people because I was terribly afraid that because it was broken bones that I would end up back under the care of an orthopedic person who didn't understand dystonia.
So, I was seen by neurologists at that point, but that resulted in three months in the hospital because they couldn't operate because of the dystonia. It would be too extreme, the spasms would be too extreme. So I just had to lie in bed with a brace on my leg for three months, well, six weeks, and then six weeks in the rehab hospital and learning to walk again and all that. So yeah, that was a tough time. And after that, yeah, it just never recovered because then we went into lockdown, the pandemic.

Dr. Correa:
Oh, yeah.

Liz Nugent:
Yeah, there was no physiotherapy available, for five months I had no physiotherapy. So all the progress I had made in the rehab all went backwards because I was doing the exercises but I was doing them incorrectly. And if you don't do the exercises, without supervision, sometimes you might as well not do them at all. Some of them I was doing quite well and some I was doing incorrectly. And so yeah, it's been a long old hole until the year before last, my neurologist suggested to me that I have deep brain stimulation surgery.

Dr. Correa:
Thank you, Liz. Now, we had so much to talk about that we will be continuing our discussion with Liz in next week's episode, where we will hear about her DBS experience and how her own experience with dystonia influenced the way she writes characters into storylines and the themes of control, vulnerability or resilience are weaved into her novels.
Want to learn more about the conditions discussed in this episode and other factors that could impact your brain health? For the latest on causes, symptoms, diagnosis, treatment, and management of more than 250 of some of the most common and rare neurologic conditions, please visit BrainandLife.org/disorders.
Welcome back. I'm really so appreciative of Liz's opportunity to share with us her story, her own experience with her dystonia, some of her challenges along the way, both managing with the symptoms, but then her day-to-day life, and then navigating our communities and how other people see her with dystonia.
And today for our medical expert, we're joined by Dr. Alfonso Fasano. He's a world-renowned neurologist and movement disorder specialist. Dr. Fasano is the Chair in Neuromodulation at University of Toronto, and a neurologist there at one of the Toronto hospitals. And an expert in treating dystonia along with other movement disorders, particularly with botulinum toxin, we'll talk about in a bit, and deep brain stimulation or DBS.
Dr. Fasano. Alfonso, thank you so much for joining us here today.

Dr. Fasano:
Thank you for the opportunity to discuss this important disease.

Dr. Correa:
I wanted to start, we've had episodes to talk about dystonias and other categories, but for our listeners where this is a new topic, how would you describe dystonia in everyday terms?

Dr. Fasano:
Yes, dystonia is actually relatively common, certainly not the most common neurological conditions, but part of the reason it's perceived as a non-common condition is because people don't really know how to recognize it. But simply speaking, it is a combination, the variable combination of involuntary spas, so that produce either movement or postures, so fixed usually with a twisting characteristic, postures of any body part. So actually, any part of the body can be affected by dystonia.
The most common, the most characteristic that people will recognize is torticollis or cervical dystonia, which is characterized by the head turning on one side, but really, the head can take any position. It can also shake a little, that it configures as a dystonic movement. So if we use torticollis as an example of dystonia, and we can transpose this example to other body part, you can have dystonia in the upper limb or the legs or the foot, or even the eyes can be affected, particularly the eyelids, the vocal cords. So really, any muscle can be affected by this movement disorder, dystonia. And it's, as I said, the combination of postures, so more fixed positions and involuntary movements sometimes are quite fast and they mimic tremors, so we say tremulous in these cases.

Dr. Correa:
Now, I could see a listener hearing this and say oh, triggering a movement or a posture, how is this different from the cramp that happens in my foot or my calf or arm after exercise?

Dr. Fasano:
Oh, that's a great question. So cramps are typically a peripheral problem. And when a neurologist says peripheral, it means nerves and muscles. Dystonia instead, originates in the brain, and with some exceptions is a constant problem, it doesn't come and go. So dystonia is constant. Yes, there might be period of time, especially under stress where it gets worse, but the person with dystonia tends to have dystonia all the time.
There's an exception to this rule, which are so-called episodic dystonias, which are not that common, and they can be triggered by exercise. Or a classic example will be tasks, specific dystonia where you have dystonia only when specifically doing a certain activity, for example, writer's cramp or a musician cramps. So the person will have a dystonia, but triggered by the activity, the repetitive activity that this person has been doing, like playing an instrument or writing.
But a cramp is a much simpler problem. It is painful, it affects a small isolated region of a muscle, and it, as I said, originates in the nerve or the muscle itself. So, it's way more complex than just cramps.

Dr. Correa:
And you mentioned several task specific dystonias, and for those of us who are listeners who've been listening for a while or following, we have episodes you can go back and listen to on a running dystonia with Justine Galloway, vocal dystonias with Greta Morgan, or focal dystonias, kind of like what you were describing as a cervical dystonia with Rogers Hartmann.
Now, Liz Nugent shared with us really more of a dystonia that came after an injury when she has as a child, and we had a past episode with Billy McLaughlin who had dystonia after a spinal cord injury. How are those injury-related dystonias that have come after a brain or a spinal cord injury different from these task-specific dystonias?

Dr. Fasano:
Absolutely. So we don't have to again, explain what a task-specific dystonia is, but I can say that when you're dealing with an acquired dystonia, when so dystonia is caused by something else that happened to the brain or the spine, you're dealing with something that tends to be more constant for sure. So task specificity in an acquired dystonia is, I'm not aware of cases. There might be some examples, but they're very, very rare. So when there's an injury to the brain and their spine, the patient is left with a dystonia that doesn't come and go, it's more of a constant problem. Obviously, anything can worsen these problems. I mentioned anxiety before. For the same reason, there are some factors that can make things better for a period of time. For example, sleep during sleep dystonia goes away or being very relaxed might ease the symptoms of dystonia, but it tends to be more of a constant problem, unlike a task-specific dystonia.
But I think what's important to discuss in the context of an acquired dystonia is that in these cases, dystonia alone is more of an exception rather than the rule. Because as you can imagine, we have a lot of wires in the brain, so there are many circuits coexisting in us in a very small space. So anytime there's an injury in a particular region of the brain, let's say in the basal ganglia, which is an anatomical part of the brain where dystonia originates. So, let's say you have a problem there, a lesion there, an hemorrhage or any sort of other trauma, yes, you have dystonia as a result of it, but because of the proximity with some other wires, you might also have weakness or spasticity, which is another cause for muscle tension and imbalance, you can have a number of other problems.
So acquired dystonias tend to be combined with other neurological problems, and this becomes a problem, especially in terms of management, because you may still use something that works for dystonia, but that something will not help the other issues that are happening at the same time that they're limiting the functioning and the quality of life of the person suffering from it.
And since we mentioned brain and spine, I will say that the typical acquired dystonia is a lesion inside the brain. I mentioned the basal ganglia, the thalamus, which is another part of the brain. Spine lesions can cause a particularly spasticity as a result. But inside spasticity, there is also recognized dystonia sometimes or dystonia interpreted as the problem with the muscle tone, dystonia means that indeed. And in particular a phenomenon called co-contraction, which means the two muscles, they're supposed to be doing opposite effects on a limb, for example, they're active at the same time. So that is why you can have dystonia in the context of a spinal injury, which typically causes more spasticity rather than pure dystonia.

Dr. Correa:
Before we get to more specifics related to Liz's story, some of our listeners might hear, oh, I mentioned that you care for other movement disorders. Many people think of when they hear about movement disorders as Parkinson's or other tremor disorders. How would you explain what this is, as dystonia being different from those conditions?

Dr. Fasano:
Yeah, that's a quite complex question, but it's an important one. Absolutely, because dystonia indicates a symptom or we should say in medicine, a sign, so something that happens to a person, but it can also mean a disease. So I'll be more specific. So Parkinson's disease, which is well known I would say to the vast public out there, certainly more than dystonia, can present with dystonia. Or dystonia can be one of the signs of Parkinson's disease. So Parkinson's disease is the cause of a number of symptoms and signs. Tremors, lowness, rigidity, and dystonia is one of them. On the other hand, people might have dystonia and that's it, just dystonia, not caused by Parkinson's disease, not caused by a brain injury that might be caused by genetic mutations. Dystonia can be familial indeed, but it can also be caused by other factors that we are not aware of at this point. And unfortunately, often adult onset dystonia falls into this category that the neurologist can only say, "Okay, you have dystonia, but we don't know why you have it without anything else."
You mentioned tremor. A tremor is another common movement disorder, is probably the most common movement disorder. And there is debate in the literature whether dystonia and another condition called essential tremor are indeed part of the same condition. But without getting into the debate, I can simply say that dystonia can be causing some shaking of a body part and anything that shakes and its regular, has a given rhythm, but definition is tremor. So, dystonia can cause a tremor. So this is when things get complicated, but simply speaking, dystonia is a sign. It can be seen in the context of other conditions or it can be in isolation. And dystonia can also cause a tremor that some people call dystonic tremor, but this term is lately not being used too often anymore.

Dr. Correa:
So for our listeners, this is sometimes this distinction that we make between symptoms or conditions that are a symptom of another process, and we've talked about that before with different types of epilepsy and seizures. How they are a symptom of many other disease conditions as opposed to the named condition or the process going on in our brain, spinal cord, or nerves. Here, we were talking about Parkinson's.
So now in our discussion with author Liz Nugent, she shared her personal journey with this traumatic brain injury that she had as a child. And then what are some challenges that she had and other patients like her have faced with this diagnosis? What are some of the challenges that you see in the community managing with dystonia as how it affects their daily life?

Dr. Fasano:
Yeah, that's an important point. I would say the biggest challenge if I look at the patient's journey is recognition and being diagnosed on time. As I mentioned before, dystonia is probably more common than we think, but it's often under-recognized. So the typical scenario is that someone with dystonia that goes from one specialist to another for a few years before someone says, "I know what you have, this is dystonia."
For example, someone with torticollis might go to an orthopedic surgeon for a period of time and they can see even more than one. Another example is dystonia when it affects the eyes and it goes something called blepharospasm, which is the involuntary closure of the eyelids. And typically, these people are seen by ophthalmologists, not by neurologists. So it takes a while before someone really diagnose the person with dystonia. This is the very important challenge, the very first challenge that people experience. And I will say this has changed a lot over the years, especially because now dystonia is taught better during conferences, during residency programs. It is discussed in social media, it is discussed by you guys in this podcast. So clearly, there's a lot more attention to the topic and a lot more people are familiar with the condition.
But then that's not obviously the only challenge. There are problems related to the management of the condition. In particular, there are situations where the disorder is not easily managed with conservative treatments. I would say that a treatment is not always needed. Since we don't have cures, often in neurology we use what we call symptomatic treatment, so we go after the problem. Is the dystonia impacting your functioning? Is it causing pain? Is it causing embarrassment? And depending on what answer the person gives us, we might need to choose something or just monitor without doing anything. And if we were to choose something, then the decision of what to do, it depends on the location of the dystonia, how widespread it is. But clearly, we don't always have the right answer or the right treatment, and that alone becomes the next challenge that these people might have. That whatever we do to help them is not enough or it does very little to the person's health.

Dr. Correa:
Now in a moment, I wanted to get into some of that discussion about treatment and management, but I wanted to clarify one thing that I was hearing. So if someone has something that they feel like is a symptom that sounds like what we're describing here as dystonia, but it's not bothering them, are you suggesting since we don't have treatments and they may not need a management, that they don't need workup? Or do you want to make some clarification there? Because I think sometimes there is also the question about making sure we have an understanding of what might be causing the dystonia.

Dr. Fasano:
Absolutely. That's a very good point you're raising, because sometimes dystonia is caused by something that is reversible in nature. An example of this will be the use of certain drugs. This belongs to the so-called acquired dystonia, so we mentioned dystonia caused by trauma, but sometimes dystonia is caused by the use of certain drugs. Like drugs for nausea or for vomit or for vertigo, they can trigger an acute dystonic attack. And this doesn't mean that this is the beginning of dystonia from this moment on. It means actually that this is a formal dystonia we can treat easily, just stopping your offending drugs.
And you mentioned the example of a seizure versus epilepsy before. That will be a typical example where you have dystonia as a sign of something else that is happening, but it doesn't mean that the person from this moment on is going to have dystonia moving forward. So that's a typical example where something is possible that is more curative in nature. But for most part, unfortunately we deal with conditions without cures, dystonias without cures but with treatments. Often movement disorders, it is possible to do something, that's why it is a field of neurology that I like because you are really feeling powerless because you can always do something to help people suffering from a movement disorder, in this case dystonia.

Dr. Correa:
Many people would be surprised when we start talking about treatment options and that hearing that botulinum toxin injections can be a medical treatment and particularly in this condition. How does it work for someone with dystonia? What kind of symptoms does it help with? And how do you decide who it should be tried on?

Dr. Fasano:
Yes, as indicated earlier, it depends on where dystonia is and how widespread it is. For example, if dystonia involves a small region of the body, let's say the eyelids, the very first choice here will be the injection of botulinum toxin, and we know that this will be very effective in most cases. The vast majority of people suffering from a focal dystonia, especially affecting a region which are simple with very few muscles like the eyelid indeed, we know that these people will improve with botulinum toxin.
Botulinum toxin works as a weakening agent, so it's a very powerful myorelaxant, so it relaxes muscles. And obviously if it relaxes them too much, then it causes weakness, and that will be the side effects that we typically see in botulinum toxin injection. But the good thing about this treatment, it is the fact that it's reversible. So anything we see, the good and the bad coming from the injections will go away. So let's say I inject someone with focal dystonia affecting the eyelid, blepharospasm, and this causes a droopy eyelid. In a month max, the eyelid will go back to where it was and maybe dystonia will start again, and then the job of the neurologist will be to identify a different dose, a different location. So with time, the neurologist identifies the best treatment strategy and the schedule of the injections, which unfortunately need to be repeated over time. But this is a very powerful and early easy treatment to offer people with isolated dystonia affecting a small region of the body.
Also, cervical dystonia responds quite well to botulinum toxin, but then it depends, because if there is a lot of complex movements, very variable movement of the head with tremor, this is where the botulinum toxin might not be as effective as in a simpler posture or the neck or the head.
And then perhaps the most difficult to treat with botulinum toxin would be a writer's cramp, when dystonia affects the fingers or the hand. Depending how complex the dystonia is, yes, weak can weaken these muscles, but we have many muscles in the forearm, in our hand, and the chances that the toxin spreads to different muscles or the dose is too high, the dose that is able to lessen the dystonia itself is the same dose that causes weakness of the muscle. And a little weakness in the hand doesn't translate into benefit, in especially if someone is using their hands for playing the violin or to write. You need to really have full control of your muscles for fine motor tasks, and this is where botulinum toxin becomes more difficult to be used.

Dr. Correa:
And some of our listeners may have heard you say myorelaxant, or a muscle relaxant and then wonder, well, why not just take a "muscle relaxant pill?" Or why isn't there a botulinum toxin pill?

Dr. Fasano:
I'm going to start from the last one. Well, botulinum toxin as a pill will mean ingesting a toxin, and that will not end well. In fact, botulinum toxin was discovered, it's a food poisoning, people botulinum actually means sausage in Latin. So it was in a not well-preserved sausage, built and produced by a bacteria, and people actually died from intoxication of this ingestion. So I would stay away from pill of botulinum toxin, but injecting in the muscle is absolutely safe if the doses are within the range that we use nowadays.
Instead, as for the drug, a massive relaxant as you indicated, which of course is the way the big public knows refers to these drugs. That's a good question, and we have a number of drugs that are used as muscle relaxant, but these are not as effective as injecting the muscle relaxant directly into the muscle that needs it. And in fact, if you use high doses of these drugs like baclofen or there are a few others, diazepam, gabapentin, these drugs can be a muscle relaxant, but in order to produce enough relaxation of the muscle need to be used at a high dose and this translate into sleepiness or other side effects. So, this is why rarely we use muscle relaxant in dystonia, but certainly if dystonia affects many body parts, if it is what we call generalized dystonia, then the approach is more the ones of oral drugs as opposed to botulinum toxin injections, simply because you cannot inject every muscle of the body.

Dr. Correa:
Liz was describing for us that she had for a bit good and effective treatment, at least with her hand and the dystonia that she had in her hand to be able to use it more and some cervical dystonia that she had with botulinum toxin. But she has a right hemiparesis and dystonia throughout her right side from her cerebral brain hemorrhage, and eventually, it got to a point that it wasn't working. Where do things go from there? She's done physical therapy and occupational therapy. What are some of the other things that can be added to the management for someone who has a more complex combination of dystonias?

Dr. Fasano:
Yes, absolutely. We don't talk about physical therapy enough. That's a common problem in my field also because the evidence, the scientific evidence coming from studies is limited, but there is a role for sure for physical therapy. The challenge is that being a poorly understood and poorly known condition, it is a challenge to find the right therapist for you. But there is for sure the role for physical therapy, for occupational therapy, to some extent also for psychotherapy education. The impact of dystonia that you see in people's life is huge and it goes beyond a simple motor problems. As a matter of fact, often people with dystonia, there is also the coexistence of depression and anxiety. So it's not just treating the motor appearance or the disorder enough. So the more you do, the better it is.
Obviously the role of the neurologist is to coordinate all these interventions because sometimes you don't have to do too much, just do an injection every three months and that will be enough. But for more complex dystonia, typically the ones involving more body parts like in a generalized dystonia or hemidystonia, which means affecting only one side of the body, this is where you need more support from other specialists.
I want to emphasize one point. In these cases obviously we start from medications and if needed, and one medication that I think the listeners need to know about is levodopa, especially dystonia occurring early in life, let's say before the age of 18. It's mandatory that kids with dystonia are trialed on levodopa. Levodopa is known as a treatment for Parkinson's disease, but there is a type of dystonia, rare, but it's important not to miss, which is the one responsive to levodopa. Because if dystonia responds to levodopa, this is like a miracle. People do so well that they don't need anything else and they will do well for many years. Unfortunately, this is not common, and it's of course not the case of an acquired dystonia like a post hemorrhagic dystonia, but that's something I think we should mention in a conversation about dystonia.
Now, back to the approach, if all these more conservative approaches are not effective, and obviously you can also combine drugs and botulinum toxin injection in specific muscles. Botulinum toxin, for example, is very good for pain management, to the point that nowadays it's used for migraine. The reason we use it for migraine is because we noticed such a profound effect as a painkiller that then it went on and it was approved for migraine. But if all of this is not enough, then certainly a conversation about brain surgery in particular, deep brain stimulation is needed. And we know that the earlier in these cases, the better it is because long-standing dystonia contributes to other problems like muscle contractors, shortening on the tendons. And even if you help dystonia at this point, you are not going to change the spine of the person suffering from dystonia for so long or the tendons or the muscles. So you may have a person with no more dystonia, but nothing has really changed because the body has now suffered from a new shaping of the structures like bones and tendons.

Dr. Correa:
Now, I mean, I've had discussions with individuals and their families about brain surgical procedures or what we describe as neuromodulation, these stimulation procedures, for other conditions like seizures and epilepsy. And that conversation around deep brain stimulation starts to trigger this sense of like a science fiction intervention. Can you explain for us how deep brain stimulation or as the acronym that we often use, DBS, works for dystonia? And what kind of patients might it benefit?

Dr. Fasano:
Yes, DBS or deep brain stimulation is not experimental. It's been around for over three decades. It is approved in many countries for dystonia. In the states it is used under certain circumstances, which I cannot speak to because I don't practice in the states, but it's widely adopted and it's quite effective and used by basically any major mood disorder center.
So, I know it might sounds like science fiction because it is an electrode placed in the brain, but if you think about it, we do the same for the heart and we call it cardiac pacemaker. In cardiac pacemaker, we have a battery pack with a little computer implanted in the chest of the patient, and the electrodes in this case go to the heart. Cardiac pacemaker has been around for almost a century at this point. And in DBS, the same thing is done, but the electrode ends up in the brain. So nothing really experimental, it's nothing cruel or just to try and see what happens.
But I think the reason why people might perceive the deep brain stimulation as science fiction or experimental is the fact that the brain is poorly known as an organ, certainly less known that the heart, and many conditions have no treatment. So DBS being so flexible and relatively safe is now explored for a number of indications which are experimental. From dementia to depression, DBS is being implemented on a daily basis in experimental settings, and this is why you see it covered on the news very often. And this is probably why people are left with the impression that DBS is experimental, but DBS has a number of official indications. Parkinson's is probably the most common one, but also epilepsy, tremor, so, and this is not experimental. It's supported by a lot of literature, a lot of very well-conducted studies that have indicated its efficacy and safety.
Now, because it's a brain operation, we don't use it in every patient, we only use it when needed. And what I mean by that is when dystonia is affecting the quality of life of the person, the functioning, other things have been tried botulinum toxin, drugs, less invasive options for sure, and they haven't been enough to improve the functioning of the, and this is when you consider the deep brain stimulation.
In conclusion, what I'm saying is key because it's all down to expectations and education of people suffering from dystonia and their families. For example, you mentioned earlier that our novelist has yes, dystonia, but also you refer to hemiparesis or weakness on one side to use a simpler term, we do DBS to help dystonia. DBS will not do anything to the weakness. So this needs to be clarified because the person needs to know upfront, and also the conversation needs to be around the fact, what's impacting your life more? The dystonia, so the spasming, the cramps, the pain, the postures, the involuntary movements, or the lack of movement coming from weakness? Because if the answer is the latter, then DBS doesn't make any sense because yes, you will get rid of dystonia, but the patient's life will not be that different because the major driver of disability, in this case weakness, would be exactly the same.

Dr. Correa:
Now, and a lot of people wonder, these electrodes that are going into the brain, what are they doing? Are they recording? Is some of my brain activity somehow being interpreted or taken out? There can be a lot of stress and sense of like, what's going on? So I wanted to give you the opportunity to explain, at least in this context of deep brain stimulation, what are we doing with those electrodes?

Dr. Fasano:
What DBS does is very simple. DBS produces an electrical field, it's actually a square wave. Say if we want to look at from an engineering standpoint, we use electricity just to confuse the neurons. So you need to imagine in the brain of someone with dystonia, a group of neurons often in a region called globus pallidus, they are doing a bad job. They are too active and they're causing the symptoms of dystonia. In theory, if we were to kill these neurons to lesion the brain, this particular part of the brain, dystonia will improve, but this will be a permanent lesion. It's not impossible, we do it, we call it pallidotomy, but DBS is a more elegant, more refined way to control the activity of these neurons without killing them. So we're basically, in certain electrodes in this population of neurons doing a bad job, and we use electricity to confuse them, so we jam the signal.
So as someone once said, "No signal is better than a bad signal." So these neurons stop doing what they're doing because of the electricity, but we don't kill them. So we can adjust the settings, we can give more electricity, less electricity if we want to improve their... if we causing side effects from excessive stimulation. So it's reversible, as opposed to a lesion in the brain, the pallidotomy I was mentioning earlier, which works, but exposes the patients to some permanent problem in case the operation lesions too much. So DBS is just electricity to numb these neurons. Nothing more, nothing less.
You mentioned recording, and that's because modern technologies, modern DBS devices are also able to record the neuronal activity. And this has certainly improved our understanding how the brain works. And this is leading to the next phase of dystonia treatment, which is something called adaptive deep brain stimulation. Adaptive deep brain stimulation means a DBS that adjusts automatically to respond to what's happening at the neuronal level. And this is already approved and used for Parkinson's, and that's because, as I said, DBS is used quite often for Parkinson's. So we have an advantage here, we've been doing recordings, we know Parkinson's better than dystonia. But in principle, we know that in dystonia there is an excessive activity of these neurons, so the next logical step is that this activity is recorded and the stimulation is tailored minute by minute, depending on much stimulation is needed.
This doesn't mean that this recording is sent elsewhere. Even if so, we will not be able to understand what's going on in the brain. It will just be some random noise to an external observer. So there is no issue with privacy, no issue with controlling people's brain. I know some people are worried about it. I would be worried as well if I didn't know what this was, and there's no such risk.

Dr. Correa:
And you mentioned in a few places that it can be used, in epilepsy, in Parkinson's, several other conditions in addition to dystonia have this indication and approval in many countries. But some people might hear that and be like, oh, it's amazing, there's that one part of the brain you put these electrodes in and it's making and modulating all these things? Or how is the approach different in different conditions?

Dr. Fasano:
Yes, it depends. DBS is a technique, and then where the electrode ends up is a completely different story. Indeed, we have different targets. For dystonia we use the globus pallidus, which is a target at the center of the brain, part of the basal ganglia, which is the structure that controls movement. For tremor, we tend to go to the thalamus. For example, if I'm dealing with someone with dystonia and tremor, then have a conversation. What's more bothersome to you? The actual tremor, just the shaking or the tremor plus the postures, the pain, the involuntary other movements that you may have? And depending on the answer, I might actually decide to place the electrode in a different location. Or actually, I don't place the electrode, the surgeon does that, but I have a conversation with a surgeon about where to place the electrode. Or sometimes we place an electrode in the globus pallidus, another electrode in the thalamus. So sometimes we treat two circuits at the same time.
For Parkinson's, the most common target is the subthalamus, which is a different target. Sometimes used also for dystonia. For epilepsy is the thalamus but in a different region, it's called the anterior nucleus of the thalamus, and the list goes on and on. So, depending on the condition and what we want to achieve, we might need to place the electron in different parts of the brain.

Dr. Correa:
Well, thank you so much, Alfonso, for joining us and sharing everything that you have and your time with our listeners to talk more about dystonia, its management, and some more details. That was so much information, and we have more. So to complement the continuation of our discussion with Liz next week, we will come back to Dr. Fasano for his input as we discuss DBS and advances in medical research.
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