BACKGROUND: Dystonia is a movement disorder characterized by involuntary contractions and spasms of muscles. These actions force the body into repetitive, often twisting, movements and awkward, irregular postures. Dystonia, which may affect a single body area or be generalized through multiple muscle groups, affects men, women, and children of all ages and backgrounds. (SOURCE: www.cedars-sinai.edu)
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THINGS YOU MAY NOT KNOW: Experts estimate that a minimum of 300,000 people in North America have a form of dystonia. Dystonia can be caused by genetic mutations, reactions to drugs, or traumatic brain injury (TBI). (SOURCE: www.cedars-sinai.edu)
SYMPTOMS: Dystonia typically develops in a slow and gradual fashion, with mild symptoms. It affects muscles that may be controlled voluntarily in normal instance; it does not affect smooth muscle, as is found in the heart and bladder. Patients may begin to experience cramps, jerky or spasmodic muscle actions and loss of control of parts or areas of their body. These may grow more severe and result in the distinctive twisting and awkward postures that most people associate with this condition. (SOURCE: www.cedars-sinai.edu)
TREATMENT: Dystonia symptoms may be managed or alleviated by medication, Botulinum Toxin therapy, or surgery. Treatment has improved in recent years, due to successes with botulinum toxin (Botox, Myobloc) injections. Some forms of early-onset dystonia respond to levodopa and carbidopa (Parcopa, Sinemet) — a medication combination that increases brain dopamine, a neurotransmitter involved with muscle movement. Surgery is considered only in certain types of dystonia and when other treatments have not worked. With certain types of dystonia, surgeons can sever or remove the nerves controlling the contracted muscle. This may be done for eyelid dystonia (blepharospasm) or neck (cervical) dystonia.
(SOURCE: http://www.mayoclinic.com, www.cedars-sinai.edu)
DBS FOR DYSTONIA: Dystonia may also be treated with a range of surgical options, specifically deep brain stimulation (DBS). In DBS, leads are implanted deep in the brain and electrical stimulation is targeted at key sites to try to control shaking, stiffness and loss of muscle control. To modulate the effect of the treatment, doctors can adjust the frequency and intensity of electrical pulses. Risks include infection, stroke-like problems, such as weakness or paralysis, and possible speech difficulties.
(SOURCE: http://www.mayoclinic.com, www.cedars-sinai.edu)
Dr. Tagliati, Director of Movement Disorders Program, Department of Neurology at Cedars-Sinai Medical Center discusses deep brain stimulation for patients with dystonia.
Tell me what dystonia is.
Dr. Tagliati: Dystonia is a relatively uncommon disorder, and that's probably why many people don't know what it is. Dystonia is defined by involuntary muscle spasms. The brain seems to become unable – for reasons that are not fully understood – to control the strength of muscle contractions and determine which muscles need to be activated for any particular movement. So, for example, if I want to pick up a pen, which is a relatively light object, instead of just pinching the pen with my fingers, my elbow may start elevating, my shoulder may start contracting, and my head may start pulling to the side. In other words, muscles not involved in what I want to do start to spasm on their own.
It seems like it could be very disabling.
Dr. Tagliati: It can be incredibly disabling. We recognize several degrees of severity. We call it "focal" dystonia when the problem affects only a small group of muscles – say only the muscles of the hand or of the foot. But then there are more disabling types of dystonia that we call "generalized," where many more muscle groups are affected and the patient cannot walk, sometimes cannot even sit or stand up.
Is there an age group that it affects?
Dr. Tagliati: There are two age groups that are most frequently affected. One typical age of onset is during childhood, around 9 or 10 years old. This type of dystonia tends to generalize – they're much more severe, and usually on a genetic basis, meaning there is a genetic defect that is associated with these problems. Then there is a second age that is typical for dystonia onset, which is the adult age, around age 40 or 50. In these cases, the dystonia tends to remain focal, usually affecting the neck, the face or the hand. You may have heard of terms like "torticollis" (neck dystonia) or "writer's cramp" (hand dystonia).
So does this just show up for adults when they get it?
Dr. Tagliati: Literally, we don't know why dystonia occurs. We don't have a good explanation, especially for adults. For children, as I said, we know of a few genetic defects that are currently under study, but for adults, most of the time we don't know. Sometimes they are associated with some type of trauma, either physical or psychological, but we believe that those are more triggers than causative events. They don't cause the dystonia; otherwise, obviously, anybody who has a trauma would end up with these problems. But we have very little idea, unfortunately, of where they come from.
Before DBS, how would you treat these patients?
Dr. Tagliati: There are several ways to treat these patients. There are some medications that can be given, some muscle relaxants, in general terms, that are not specific for dystonia, unfortunately. They just relax all the muscles in the body and they usually have a number of side effects that can make you sleepy or confused. And so we use them very carefully.
What percentage of the patients does that help?
Dr. Tagliati: Only a small percentage. In the best case scenario, probably one out of four find benefits with these medications. When the dystonia is focal, however, we can use botulinum toxin, which has become very popular because of the cosmetic use, but we've been using it for at least a couple of decades to selectively relax the muscles that are spasming as an effect of the dystonia.
Do you use the same medicines they use for Parkinson's?
Dr. Tagliati: Sometimes we can use the same medication as Parkinson's because dystonia is sort of a close family member of Parkinson's disease. In fact, some patients with Parkinson's disease may have dystonia, abnormal muscle contractions, as part of their syndrome – of the Parkinson's disease syndrome. However, it's just a part of it, while in patients with dystonia the abnormal spasms are the only problem that they present with. So in some small percentage of patients with dystonia, we can use levodopa or dopamine agonists that are the same medications we use for Parkinson's disease. But again, it's only a small percentage of patients that benefit from these medications.
Is there any other type of surgery or does it go directly to DBS?
Dr. Tagliati: If the medications don't work or they have side effects that limit their use, if botulinum toxin either doesn't work or needs to be used in too many muscles to be reasonably effective and at doses that are not recommended, we usually go to the surgical options. There are two types of surgery. One that is not much used these days is what we call peripheral denervation. Literally, the surgeon cuts off the nerve that goes to the muscle that is spasming, sort of interrupting the communication between the brain and the muscle. This is something that, first of all, doesn't work all the time and, obviously, in many cases, leaves a weak muscle. It's very similar to what we do with botulinum toxin but much more radical, much more aggressive. It was done in the past and now it's almost abandoned because we found that with the brain stimulation we can have much better results.
How does the deep brain stimulation work?
Dr. Tagliati: Deep brain stimulation is a surgical procedure that requires the implantation of one or two electrodes on one or both sides of the brain. Deep in the brain is an area called the globus pallidus, which we believe is not functioning properly in a patient with dystonia. Once the electrodes are implanted, with high precision by a specialized surgeon, they are connected through wires under the skin to pacemakers very similar to cardiac pacemakers. They are implanted under the skin of the chest. And once this whole device is implanted, we deliver, literally, electrical pulses to that area of the brain. And for reasons that we're still studying, that are not well defined, these electrical impulses seem to reset the functioning of the brain and the spasms slowly, but surprisingly well, go away.
How long does it take for this to help?
Dr. Tagliati: It takes some time. In very few cases, the spasms may go away in front of you, but that's more the exception than the rule. Most of the time, the spasms may take weeks or months to go away. And this might be due to the need for the brain to sort of reset this abnormal circuitry or sometimes there may be more mundane reasons, such as finding the right pulses, because it is still a science in evolution. We're still not sure which is the best pulse to treat dystonia and it may be different from patient to patient. You don't just turn the device on and the spasms go away. You need to find the right patterns of stimulation in order to relieve the symptoms.
So patients will have to keep this for life?
Dr. Tagliati: Yes, as far as we know. The current state of knowledge is that this is something the patients will need to keep in their brain and under the skin of their chest for their life.
Because if you take it out it might come back?
Dr. Tagliati: As far as we know, yes. However, sometimes, in some patients, even when you turn the device off, either by accident or because the battery is running out of charge, these patients seem to continue to do well and not go back to their pre-surgical level of disability. These observations are planting a small seed of hope that maybe if you stimulate long enough you might permanently reverse these symptoms. This is more of a hope than a scientific piece of knowledge, a scientific fact, but it's something that we are studying. Remember, we started stimulating these patients not more than 10 years ago, so we don't have virtually anyone who has been stimulated for more than 10, maybe 15 years, with the first experimental implants in Europe. And so we're literally learning day by day what can happen to these patients. The good news is, so far, as long as the stimulation goes on, in the vast majority of patients the symptoms don't come back. And in some selected cases, even when the stimulation stops for whatever reason – we don't stop it voluntarily but it may get turned off passing through a metal detector or because the batteries get discharged – the symptoms seem not to come back, at least for some time. This is really something that we want to study in depth because it might be an interesting avenue of research to cure this disease.
It has to be incredibly liberating for these patients.
Dr. Tagliati: The patients are elated, to say the least, I mean, especially when they are children. These are children that have been eliminating virtually every action of their daily life, from writing on a piece of paper to walking or running or playing sports. Sometimes they need to take medications that limit their ability to follow the teachers at school. So being without symptoms, as you can imagine, is incredibly liberating, but also for adults, obviously, that may go through the surgery. This is a great therapy; sometimes it's what you would define a medical miracle. There are kids that go from the wheelchair to walking and running normally.
How did you see Michael?
Dr. Tagliati: Michael is one of our first and most exciting patients, I would say. He came from Miami, from Florida, and his symptoms were already pretty advanced. His dystonia was generalized.
How old was he?
Dr. Tagliati: I think when he came to see us he was probably 15 or 16, so he was an adolescent.
What was he like?
Dr. Tagliati: He was very affected. He could not sit on the chair. He had to lie down on the bed or on the floor. He could not comfortably stay up because his trunk wanted to bend forward, or on his side. He could not hold a pen in his hand, literally, and he could not write his name on a piece of paper. He could walk, barely. His legs were not terribly affected but his feet were like sweeping on the side and his trunk was bending forward. He was basically wheelchair bound.
How is he doing now?
Dr. Tagliati: Now he's a normal 22- year-old man in law school.
What's that like for you?
Dr. Tagliati: It's unbelievable. Every time, it's a wonderful feeling. It's one of those feelings you never get used to. Even though we see these results over and over – Michael is not the exception; I would say he's the rule – every time it's a little miracle. Every time, it's an incredible satisfaction to see these young people getting out of the wheelchair and getting perfect control of their movements.