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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?

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.

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.

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.

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?

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?

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.

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.

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.

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.

Interviewer: We all know that a stroke is a serious and potentially life-threatening situation, but it might surprise you that it impacts women more than men. According to the CDC, stroke is the fifth leading cause of death for women in the U.S., and as many as one in five women between the ages of 55 and 75 will have a stroke.

To help us better understand why women face an increased risk of stroke, were joined by Dr. Jana Wold, an associate professor of neurology and a stroke specialist at University of Utah Health.

Dr. Wold, let's start out with why are women at more risk of stroke than men?

Dr. Wold: So the best way to understand it is because women live longer than men and because stroke risk increases with age. So because we have a larger proportion of the population in this older age group, the greater-than-85-years-old age group that are women, and also that's when your stroke risk really ramps up, overall more women have strokes than men.

Interviewer: So I'm hearing that more older women might have strokes than men. What about younger women?

Dr. Wold: Unfortunately, there is a risk of stroke in pregnancy. So, at a younger age, there also is a brief period of time when women are of childbearing age that their stroke risk could be higher than some men.

Interviewer: Yeah. And that is very unique, childbearing, to women obviously. What are some other risk factors that are very unique to women versus men?

Dr. Wold: Yeah. So women take oral contraceptives. Not all women, but some women do. And those medications, unfortunately, do carry a small risk of stroke. So in the wide scheme of things, it's a very small risk.

And women who take oral contraceptives tend to be women younger than the age of 50, so their overall risk of stroke is low, but if you are taking oral contraceptives, that can double your stroke risk. And if you are smoking while you are taking your oral contraceptives, that can dramatically increase your stroke risk.

Also, in speaking of oral contraceptives, oral contraceptives should not be given to women who have migraine with aura because that also increases your stroke risk, because migraine with aura independently increases your stroke risk.

Hormone replacement therapy. So if you are taking hormone replacement therapy for a long period of time, this also can increase your risk of stroke. There was a time many years ago when we thought maybe taking hormone replacement could actually decrease your risk of stroke, and that is not true.

The other important thing that I haven't mentioned yet — atrial fibrillation. So atrial fibrillation carries a high risk of stroke. It is uncommon in the younger population, but as you age, your risk for atrial fibrillation increases. And it's actually riskier for women to have atrial fibrillation than it is for men when you consider their stroke risk. So atrial fibrillation, you can be screened for this in your doctor's office when you are above the age of 75.

Interviewer: So if a woman's listening and she recognized some of these increased risk factors, does that mean that perhaps hormone therapy is not a great idea, birth control is not a great idea? How can a woman weigh the risk versus the benefits of those things?

Dr. Wold: Yes, absolutely. So this is where your primary care doctor comes into play. Everyone should have a primary care doctor whether or not you're a woman or a man, and you need to discuss this with your primary care doctor.

So, for example, if you are a young woman and you're considering going on oral contraceptives, you need to make sure that your physician is aware if you suffer from migraine with aura or if you are a current smoker or if you have high blood pressure. So you need to be in good communication with your primary care physician to make sure that they are also considering your overall risk of stroke.

When it comes to hormone replacement therapy, again, I would have a conversation with your primary care physician or whichever physician would be prescribing this treatment for you. And you would just need to understand the risks and the benefits, because it's going to be different for different women.

Interviewer: And I understand that women sometimes don't experience the standard stroke symptoms. What are those standard symptoms?

Dr. Wold: Yeah. So the standard stroke symptoms, the way we like to remember them is an acronym known as FAST. This stands for face, arm, speech, time.

Face is for that facial asymmetry that you were speaking of before. So if your face is droopy on one side, that can be a symptom of stroke.

Also, if you have one arm that is weak, that can be a symptom of stroke.

And then if you have a change in your speech, that can be a symptom of stroke as well.

The T is for time, because if you notice any of those symptoms, you need to immediately call 911 and go to the emergency room to be evaluated.

Interviewer: And those standard symptoms, those aren't necessarily always the way women experience stroke symptoms. Can you expand on that?

Dr. Wold: Not necessarily. There are some studies showing that women are more likely to have atypical symptoms of stroke, but it's not clearly defined what those would be. So, overall, I would say when you experience any sort of acute change in your vision or your speech or your strength or your walking, that's when you need to consider stroke.

Interviewer: And are there other risk factors that women would want to keep in mind?

Dr. Wold: I would just consider changes in those areas. And a lot of women, also men, like to call their neighbor, call their son, call their daughter. I would encourage you to call 911 when you notice those symptoms.

Interviewer: Right. Because the tricky thing about stroke is it can kind of trick you, can't it?

Dr. Wold: It can. And the medications that we can provide in the emergency room, there's one medication and it's time sensitive, so you need to get to the emergency room very quickly.

Interviewer: Dr. Wold, in your experience, what are some of the misconceptions that you find that people have when it comes to women and stroke?

Dr. Wold: I think a misconception can be that there's nothing that you can do about your risk for stroke, and because the risk of stroke increases as you age, that it sort of is just inevitable, and that once you have a stroke, then you need to try to prevent the second one. But we as stroke physicians would certainly like people to be interested in preventing that first stroke, which you certainly can do.

Interviewer: If there's a woman listening and she might be worried now about her risk of stroke, what takeaway message would you give to them?

Dr. Wold: The takeaway message would be to know what your independent risk is for stroke, and so to consider if you have high blood pressure. If you have high blood pressure, you need to be under the care of a physician. You need to have it properly treated. And if you are a smoker, you should consider stopping smoking.

The other thing that you can do as far as lifestyle measures are concerned is to exercise regularly, and we mean cardiovascular exercise, and also keep a healthy diet that is high in fruits and vegetables.

Interviewer: Severe, sudden, and sometimes debilitating face pain is a symptom of a disease called trigeminal neuralgia and some people suffer with the condition and don't even realize that's what they have. Or maybe it was misdiagnosed as something else so they can't get treatment.

Dr. Shervin Rahimpour is a neurosurgeon who specializes in the surgical treatment of trigeminal neuralgia, and he's going to help us understand how to come to that diagnosis. So first of all, you tell me it's a poorly diagnosed disease. What exactly do you mean by that?

Dr. Rahimpour: Often this pain is distributed around the cheek and jaw area. And so it's natural for patients to think that this is likely a result of their dental health. And so they often seek treatment through a dentist, usually, you know, undergo a tooth extraction or something like that, and that pain persists. So that's often why this is poorly diagnosed is because it overlaps with other common issues like having tooth pain.

Interviewer: Yeah. And I think a lot of us think well, the pain is here, this must be the source of the pain. It's in my mouth or my cheek, it must be the source. But that's not the case with this disease. Where does the pain originate from?

Dr. Rahimpour: The trigeminal nerve, which is one of the 12 cranial nerves that we have, supplies, amongst other things, the sensation that we feel over our face. So there are two nerves, one for each side. Each nerve supplies the sensation to that half of the face. And the nerve has three divisions associated with it. There's one that kind of overlays the forehead and around the eye. The other division is around the cheek area, and then a third division encompasses the jaw. And so most commonly, the pain is likely to affect those bottom two divisions, which is around the cheek and the jaw area, and that's where this overlap comes with potentially pain coming from your teeth.

Interviewer: And somebody goes to the dentist, they have an extraction done and that doesn't solve anything. Do they try to get a diagnosis beyond that, or do most people just give up or do you know?

Dr. Rahimpour: Yeah, I should add that sometimes it can be your teeth. So it is worth having that evaluation done by your dentist. But eventually, this pain syndrome is referred either to a pain specialist or even a neurologist. Those are the folks that typically end up diagnosing this as trigeminal neuralgia-type pain.

Interviewer: Explain some of the common symptoms that people might experience.

Dr. Rahimpour: Yeah, absolutely. So again, this pain used to be . . . this disease used to be known as suicide disease because it was such a horrible pain for patients to experience. And it's often a severe electric type jolt or stabbing pain involving one or more of the divisions of the trigeminal nerve of the face. It's often set off by very relatively innocuous stimuli. What I mean by that is anything as simple as just a gust of wind, or talking or brushing your teeth, or having water hit your face when you're taking a shower. These are kind of the very, very basic and innocuous things that can trigger that type of pain.

Interviewer: And what's going on with the nerves that is causing this pain?

Dr. Rahimpour: The vast majority of cases are thought to be caused by a vessel sitting on the nerve root as it enters into the brainstem. And so what this vessel causes is damage over a period of time that ends up injuring the insulation around the nerve known as myelin. And then this can result in sort of aberrant firing of the nerve.

Interviewer: So it's rubbing against there, damaging the insulation every time your heart beats.

Dr. Rahimpour: That's exactly right.

Interviewer: It's damaging the . . . Okay.

Dr. Rahimpour: So the thought is that if we can remove or transpose this vessel from the nerve root . . .

Interviewer: Yeah, get it away from there.

Dr. Rahimpour: Get it away from there, that could potentially allow the nerve to heal and prevent some of this aberrant firing.

Interviewer: And if a patient has this type of pain, they would go to their primary care physician first likely. What would that workup look like?

Dr. Rahimpour: Typically, the patient has these classic types of symptoms or the stabbing electric type pains of the facial region, again, involving either one or more divisions of the trigeminal nerve. And we often ask patients, you know, "How is this pain brought about?" If it's something, again, wind, chewing, talking, anything like that, that's pretty consistent with trigeminal neuralgia. The pain also again persists to seconds to potentially minutes, and so that's another signature or hallmark of the disease. And we often look for patients that, you know, typically we find that this disease occurs more often in the older population. So the incidence kind of climbs as age goes up. But this can also be a result of some other secondary processes. Certainly, it can range anything from facial trauma and include other secondary causes like multiple sclerosis.

Interviewer: At what point should a person consider consulting with a physician who specializes in trigeminal neuralgia?

Dr. Rahimpour: I think early on it's best to have the medical therapy be optimized. So a lot of the medications we use for this type of pain are actually anticonvulsants used in epilepsy. The reason why is because, similar to epilepsy, the nerve can act on its own and fire. And so the idea is can we stabilize this nerve so that it prevents it from firing, the same way that we try for epilepsy. Those types of medications are started, they're increased to a therapeutic level and then the patient is evaluated to see if this treats their pain. Again, the vast majority of patients respond to these medications, something upwards of 90%, but half of those patients end up having unwanted drug side effects. And then, of course, there's a 10% that did not respond to the medication at all.

Interviewer: Yeah. And this medication, is it kind of a dialing-in process, you've kind of got to figure out the sweet spot for everybody?

Dr. Rahimpour: Yeah, I would say that most anticonvulsants are started at a low dose and gradually titrated up.

Interviewer: And for the individual that is not responding to medication, or the side effects are just so terrible that it's really impacting the quality of life, and that's where the microvascular decompression procedure comes in. That's what you're doing there.

Dr. Rahimpour: That's exactly right. So for patients that aren't responding to the medication, if they've had an MRI scan that shows that potentially there might be a vessel there pushing on the nerve, that's where microvascular decompression can play a role.

Interviewer: What about for patients where they have the condition, and it's not pressing against that nerve? That's possible, right?

Dr. Rahimpour: Patients where we don't necessarily see a blood vessel pushing on the nerve, or they might not necessarily be a good operative candidate, we can offer other minimally invasive approaches. Those approaches include percutaneous rhizotomies. The premise there is that we with a needle go to the base of this nerve, known as the trigeminal ganglion, and we try to damage that nerve to sort of disrupt the pain signal. The other option is using radiation in the same way that folks use it for tumors to try to focus the radiation and try to damage the nerve again, to stop this pain signaling.

Interviewer: Are these other last two procedures, are they an alternative to somebody getting a microvascular decompression?

Dr. Rahimpour: They are alternatives, but I should add that they're not as efficacious. So when we do find patients are good candidates for microvascular decompression, we try to advocate for that as it gives us the best chance for pain freedom.

Interviewer: After somebody has the microvascular decompression, what is the success rate that that actually takes care of the pain?

Dr. Rahimpour: We expect that patients often have immediate pain relief after surgery, especially if we do find a blood vessel that's compressing the nerve. Historically, 70% to 80% of patients are still pain-free at five years.

Interviewer: And the other 20%?

Dr. Rahimpour: Pain can reoccur. And if that's the case, we can always revisit other possible interventions, including some of the percutaneous and radiosurgery techniques that I mentioned.

Interviewer: For the patients who get the microvascular decompression, what's the satisfaction rate among those patients? I hear this could be life-changing for some people.

Dr. Rahimpour: Absolutely. So again, this is a very debilitating disease. I mean, you can imagine if it's affecting the way you eat, and the way you conduct yourself throughout your day-to-day in anticipation of a sudden pain strike, being pain-free means everything. And so when patients are pain-free again, where we expect that to be the case in the vast, vast majority of times after microvascular decompression, this is absolutely life-changing.