Interviewer: Dystonia is a movement disorder. It causes muscles to contract involuntarily, and sometimes it can lead to repetitive or twisting movements in different parts of the body. The involuntary movements can really impact a person's daily life.
Neurologist and movement disorder specialist, Panagiotis Kassavetis, works with dystonia patients at University of Utah Health.
Dr. Kassavetis, it's my understanding that dystonia can sometimes be a difficult condition to diagnose. So when does a patient usually come to see you or somebody like you, a specialist, at a movement disorder clinic?
Diagnosing and Misdiagnosis of Dystonia
Dr. Kassavetis: Yeah, a lot of times patients would have an abnormal muscle contraction, abnormal movement, and they will refer to the movement disorders clinic. So when we see them, we have to think about dystonia and we have to think about how to diagnose dystonia.
Interviewer: So the referring physicians a lot of times know that there's some sort of movement disorder here. They might not be able to make that diagnosis, but they know that you would be able to do that.
Dr. Kassavetis: Yeah. So we take into account a lot of different elements, including the physical examination, the history of the patient, the family history. Sometimes we do some workup including brain imaging, laboratory tests in order to come up with a diagnosis.
Interviewer: So this isn't something that somebody could go on the internet and diagnose themselves very easily? Or could they get close? Have you had patients that did not receive a proper diagnosis, did some research, and said, "I think this is what I have"?
Dr. Kassavetis: This is very common in dystonia, a misdiagnosis of dystonia. The problem is that the definition of dystonia is abnormal, involuntary twisting movements, tremors that are repetitive. This can happen from many other different conditions. Strokes can have abnormal movements. Multiple sclerosis can cause abnormal movements, muscle conditions. Peripheral nerve conditions can cause abnormal movements. It's very common for the patients to misdiagnose themselves.
Also, on the internet, there is a lot of content that is not accurate. So a lot of patients, if you Google or if you go to YouTube and search for dystonia, you will see a lot of patients that are diagnosed with dystonia or present themselves as having dystonia, but they don't really have dystonia. And there are studies to prove that.
Interviewer: Wow. Okay. So it's a very difficult disease to diagnose. Really, it requires a professional, it requires imaging, it requires other tests as well. After a person has symptoms of dystonia, how long on average before they actually do receive that diagnosis?
Dr. Kassavetis: It can take years. Depending on the severity of the symptoms, it can take years. If it's a subtle symptom, the patients may bounce from one doctor to the other, and for many years they wouldn't have a diagnosis or treatment. If the symptoms are very severe, usually there is more pressure to reach movement disorders clinic and they get the diagnosis.
Signs and Symptoms of Dystonia
Interviewer: So it's difficult to diagnose. Is one of the reasons because it has many symptoms and presentations? Tell me more about that.
Dr. Kassavetis: Dystonia is very heterogeneous, so it can be very difficult to have a specific pattern that as a physician, when you see it, you're sure that this is dystonia. You have to know a lot of details about dystonia.
For example, dystonia can affect pretty much anybody. It can affect young children or it can affect older adults. It can be generalized when the abnormal muscle spasms happen throughout the body, or it can be focal with a very task-specific presentation where the pinky finger, for example, may contract when the patient writes. So it can be very heterogeneous, and for that reason, it's very difficult to diagnose.
Interviewer: How do patients describe their symptoms when they have dystonia? It's probably very difficult because you've already explained that it can be a lot of different symptoms seemingly. So how do they describe? What are some of the words they use when you talk to them?
Dr. Kassavetis: The way the patients describe the symptoms are actually very important for the diagnosis of dystonia. So the words that they use are muscle spasm or a pulling or muscle contraction, muscle spasm, cramp.
Usually, the dystonias are not painful. So the first, the chief complaint is usually the abnormal movement. It's not pain. When you hear a patient presenting with mostly complaining of pain and secondarily they say that there may be some abnormal movement, then this is a red flag for dystonia. Some dystonias are painful indeed, but usually the abnormal movement is more of a complaint than any other symptom, including pain.
Interviewer: And then as you're observing somebody, if the symptoms manifest while you're doing the consulting, what does that look like? Is it something the average person would notice?
Dr. Kassavetis: Sometimes it's very subtle and it's very difficult to notice. The neurological exam for dystonia has to be tailored to the specific dystonia. So sometimes we have to walk outside of the clinic to be able to see the dystonia.
For example, if somebody has stairs dystonia where the dystonia happens when they go up the stairs, we have to walk outside the clinic, find the stairs, ask the patient to go up and down in order to see the dystonia. So we have to trigger the dystonia. We have to find ways to be able to see the symptoms in the dystonia.
We have sometimes to bring tools. Patients that have a particular dystonia that's called musician's dystonia, the dystonia happens only when they play their musical instrument. We ask them to bring their guitar or their instrument to play it in the clinic so we can see the abnormal movement.
Living with Dystonia
Interviewer: So how can dystonia interfere with a patient's daily life?
Dr. Kassavetis: Usually the abnormal movement is what interferes with activities of daily living. So if somebody has an abnormal movement when they write, they're not able to write. Or when they have an abnormal movement when they play their musical instrument, this can be very challenging for some people, especially for musicians.
Now, this is all about focal dystonia. There are other dystonias that can be generalized. For example, some genetic force of dystonia that affects young children can be very severe. These patients sometimes have difficulty walking. They have to be in a wheelchair. They have sometimes difficulties eating. They need support to communicate. So because dystonia is very heterogeneous, it can affect many aspects of life and with different severities.
Treatments and Management Options for Dystonia
Interviewer: Let's talk about treatment for a moment. So does treatment cure the disease or does it just help the patient manage the symptoms?
Dr. Kassavetis: So treatment will depend on the etiology of dystonia. Dystonia is very heterogeneous in the way it presents, but also the etiology, the reason why patients get dystonia is very heterogeneous. It varies a lot. So if dystonia, for example, is a side effect of a medication, by withdrawing this medication, the dystonia improves.
But most of the time, there is no cure for dystonia. So most of the time, we use medications or surgeries to manage the symptoms.
Interviewer: So tell me about the treatment options for dystonia. Is there some sort of an order that you generally go in, or does it really vary depending on the type of dystonia the patient has?
Botulinum Toxin Injections for Treating Dystonia
Dr. Kassavetis: Yes, it varies depending on the dystonia that the patient has. But a general rule of thumb is that the first-line treatment for dystonia management is botulinum toxin injections. This is a toxin that we inject in the muscles to make the muscles weak and prevent them from having the abnormal spasms that they have.
Interviewer: Same thing as Botox. Is that Botox you're talking about?
Dr. Kassavetis: Botox is a specific brand of botulinum toxin.
Interviewer: Oh, okay.
Dr. Kassavetis: There are different brands of botulinum toxin that we use.
Interviewer: Got it. Okay. So that's generally the first treatment. How effective generally is that?
Dr. Kassavetis: When there is a specific focal problem, botulinum toxin injections can be very successful. The problem with those injections is that the effect does not last for very long. It lasts for about three months. So the patients have to come back every three months to the clinic to get injections.
Interviewer: And there is no point where those injections would stop, that the condition would eventually get better through those injections?
Dr. Kassavetis: That's correct. Sometimes the symptoms fluctuate over time, sometimes they get a little better, sometimes they get a little worse. But most of the time, the dystonia continues. Now, again, with the caveat that it depends on the etiology of the dystonia.
Interviewer: Yeah, the type of dystonia it is, how it's presenting, that sort of thing. So do most of your patients go for the Botox and just accept the fact that it's going to be every three months I need to come back and do that? Or do they usually ask for other options that might be more permanent at that point?
Dr. Kassavetis: For patients that have focal dystonia, and most adult dystonias are focal dystonias, they do continue with botulinum toxin injections for many years. In fact, they can go on for decades with botulinum toxin injections every three months.
Interviewer: No real side effects for that treatment?
Dr. Kassavetis: All treatments have side effects.
Interviewer: Sure. How significant are they?
Dr. Kassavetis: Botulinum toxin can cause atrophy of the muscles that we inject chronically. So it can make the muscles weak. And sometimes if the toxin spreads in muscles that don't have the dystonia, then these muscles get weak and we can affect normal functions.
For example, if we inject the patient in the neck area, where if they have a type of dystonia that's called cervical dystonia, and that's actually the most common type of focal dystonia in adults, then we can affect muscles that do the swallowing function and patients can get swallowing difficulties.
So there are always risks and side effects that we have to consider and we discuss with the patient before every treatment. And for that reason, I think it's important for patients to get treatment in clinics that have expertise in injecting patients with dystonia.
Interviewer: What's the next line of treatment for dystonia? What are other tools that you have?
Medications for Dystonia
Dr. Kassavetis: We have several medications that sometimes we try for dystonia. Unfortunately, these medications are not very successful, and a lot of times as we increase the dose of those medications, we get side effects before we even get any meaningful benefit. And if that happens, then we stop the medications.
But it's reasonable, a lot of times, to try some of those medications because sometimes they can provide meaningful benefit in addition to the botulinum toxin injections.
Surgery Options for Dystonia
Interviewer: And then surgery is also an option. How many patients need that option and who is that for?
Dr. Kassavetis: Usually we'll consider surgery only for the refractory cases where the patients don't get meaningful benefit from botulinum toxin injections or from medications. It's a type of treatment that, I would say, we consider only in very severe cases.
Interviewer: Severe meaning it really impacts quality of life?
Dr. Kassavetis: Yes. Usually, when the abnormal movements cause secondary problems, musculoskeletal problems, or the quality of life is very poor, then brain surgeries are considered. And they can be quite successful in these cases.
Physical Therapy for Dystonia
Interviewer: And what about physical therapy? Is that something that can be used for somebody who has dystonia?
Dr. Kassavetis: Physical therapy is always good. I frequently recommend physical therapy for my patients. Unfortunately, for dystonia, it's not very successful, but some patients do find some benefit. And it's a low-risk intervention, so usually it's a good thing to try.
Expectations in Caring for Patients with Dystonia
Interviewer: Back to the "it's a complicated and misunderstood condition," it sounds like it's kind of a little hit-and-miss. You kind of have to try some things out to see what works for each individual as far as treatments to get them to the place they want to be.
Dr. Kassavetis: Yes, I agree with that. I think that the treatment has to be tailored to the specific patient. We consider the etiology of the dystonia and how the symptoms present to decide which one we'll try first and which one would go second and third and so on.
Interviewer: What is it like caring for patients with dystonia?
Dr. Kassavetis: I like the patient population that has dystonia. There is a lot of reward when we are able to help the patients to improve their symptoms, and sometimes we are able to do that and that is great when it happens.
We do have cases where the patients come in, they get the diagnosis first, and then we do the treatment. And after we do the injections, the patients don't get benefit immediately, so we don't know what's going to happen. We have to wait.
We book an appointment in three months, and this is when the patient comes back and it's always a happy moment when I ask the patient, "How did that go?" And they say, "The symptoms improved significantly, so I was able to perform the task that was affected." For example, typing or writing or playing my musical instrument.
And this is fantastic because then we can repeat the injections. We have a treatment, we know that this is going to last, and we can improve significantly the patients' lives.
Interviewer: And in that case, three months later, if the patient came in and said, "Eh, it's not really helping," what do you do at that point?
Dr. Kassavetis: That is expected. Not every time the injections work the same way. So sometimes we have great benefit, meaning that 80% or 90% of improvement. But sometimes the patient may come back and say, "This time it worked 50% or 40%," and this is expected.
Then that would mean two things. Either the last time we did the injections, we gave a smaller dose or the targeting was not correct or it is not so accurate, or the dystonia has progressed. Now, the dystonia has different features. So the way to address that is to adjust the pattern of injections or maybe the dose of injections.
And usually, when the patients had some response in the past, we do expect that we'll get it back.
Interviewer: And what is the average amount of time for somebody to get to a point where they are happy with the amount of symptom reduction that they have?
Dr. Kassavetis: So usually when I inject for the first time a patient, I'm very conservative. To avoid side effects, we try to decide on a lower dose. And it's possible that the first time, the pattern of injections, the dose of injections is not optimal. So usually I say to the patients, "We need to try two or three times to optimize the pattern of injections." And two or three times, this means about six or nine months. So it can take half a year or a year until we optimize the botulinum toxin pattern.
I think what's really important is patients that have dystonia or they have suspected dystonia to at least be seen in the beginning or when they have symptoms in a movement disorders clinic. Sometimes we are able to see the patients, make diagnosis, make a treatment plan, and then they're able to return back to their local neurologist and continue the treatment. But I think that if somebody has abnormal movements, muscle spasms, a referral to a movement disorders clinic is very important.
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