Movement Disorders: Generalized Dystonia

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Movement Disorders: Generalized Dystonia




Guest:  Dr. Vanessa Hinson - Neurology

Host:  Dr. Linda Austin – Psychiatry


Dr. Linda Austin:  I’m Dr. Linda Austin.  I’m interviewing Dr. Vanessa Hinson who is Assistant Professor of Neurology and Director of the Movement Disorders Program here at the Medical University of South Carolina.  Dr. Hinson, you’re an expert in the treatment of a movement disorder called a dystonia.  Just what is a dystonia?


Dr. Vanessa Hinson:  A dystonia is an abnormal muscle contraction.  And, interestingly, the origin of the dystonia is not the muscle itself, but the brain.  The brain basically gives patients with dystonia an abnormal signal to then respond with an abnormal and often painful muscle contraction.  The dystonia can manifest itself in the whole body in the form of a generalized dystonia or it can be focal, isolated to one specific body part. 


Patients with focal dystonias have muscle contractions in one isolated body part, for example, their neck, where they have a twisted neck posture that can be painful.  These patients are unable to turn the head fully left or right, front or back, so they’re very restricted in their movement and have painful muscle spasms.  The focal dystonias can also affect the hand, in the form of writer’s cramp, for example, where a patient tries to write and suddenly the hand assumes a painful contracture and the patient is unable to complete their writing task.  So, those would be focal dystonias,  whereas a generalized dystonia, a patient would have spasms in the back muscles, the neck muscles as well as the eye and leg muscles, might not be able to walk or sit if not treated.


Dr. Linda Austin:  So, would something as simple and common as a charley horse that wakes you up in the middle of the night, a leg spasm, be considered a dystonia?


Dr. Vanessa Hinson:  That is not considered a dystonia.  A dystonia, per definition, is a sustained abnormal muscle contraction.  So, a patient, before we diagnose with dystonia, would come with a typical history of, my neck is turning to the left constantly and there’s nothing I can do to correct that.  Or, if it affects the eye muscles, they would say, my eyes are constantly pulled shut because my eye muscles are pulling all the time, and, how can we help that?  It wouldn’t be an isolated incident.


Dr. Linda Austin:  I see.  So, waking up with a stiff neck that resolves in the course of a day, that is not a dystonia?


Dr. Vanessa Hinson:  That is not a dystonia, whereas, if the stiff neck persists, over months, that could possibly be a dystonia and we would have to look at that more closely.


Dr. Linda Austin:  Let’s talk first about the generalized dystonia.  What causes that?


Dr. Vanessa Hinson:  Often times generalized dystonia is genetic.  Actually, the DYT1 gene mutation is the most common cause of generalized dystonia.  Often times children are affected, young children, first, with an abnormal muscle spasm in one leg, and then later their back might be affected and their arms and neck as well.  These youngsters usually have a positive family history where a relative is affected with the same disorder as it is autosomal dominant, which means that 50 percent of the children of an affected adult can have the dystonia as well.  So, this often times runs in families.


Dr. Linda Austin:  How severe can that become?  Can it become really disabling?


Dr. Vanessa Hinson:  Generalized dystonias are the most severe cases of dystonias and more rare than the focal ones.  Generalized dystonia is very severe and often times affected subjects cannot sit in a chair because their muscles pull so much that they cannot sit up right.  Sometimes they come to my office and have to lie on the stretcher or on a bed the whole time that we talk.  They have difficulty walking.  They have difficulty swallowing, chewing food.  This can be quite dramatic.  And in those instances, often times we have to resort to surgical treatment options to correct the disorder.


Dr. Linda Austin:  How successful are those surgical treatments?


Dr. Linda Austin:  Surgical treatment is indicated for patients who fail, of course, other treatment approaches, with medication by mouth or injections with certain chemodenervation therapeutics.  The surgery for dystonia is called deep brain stimulation (DBS).  And, with deep brain stimulation we can calm a lot of these excessive muscle contractions down to an extent where the patient can be comfortable, they can sit in a chair.  They can walk much more normally than before.  And they can regain a lot of their quality of life that the dystonia might have taken from them.  The surgery is relatively new.  It’s only been done for a few years.  And we’re one of the few centers is this country to offer it.


Dr. Linda Austin:  Who, here, does that surgery?


Dr. Vanessa Hinson:  Dr. Istvan Takacs, from the stereotactic neurosurgery program, is our surgeon.  Usually, patients see me first to get my input, whether the surgery would be helpful in their case, and then they’re referred to Dr. Takacs for another look and planning of the surgical procedure.


Dr. Linda Austin:  Do you know what percent of cases have a reasonably successful outcome from that surgery?


Dr. Vanessa Hinson:  If one has a genetic form of dystonia, if one takes the blood test for the DYT1 gene that I was talking about earlier, there’s a very good chance, in the range of 80 percent, that one gets dramatically better.  If one has a generalized dystonia and does not have that particular genetic abnormality, I would say that the chances are more in the 60 percent range of substantial improvement.  We do see improvement to some degree in all patients who go to surgery.  The question is, how dramatic will it be?  And, in the gene-positive patients, we see very dramatic improvements, whereas, in the other category of patients, there will still be improvement, but maybe not to an extent compared to the gene-positive patient.


Dr. Linda Austin:  But you mentioned that before a patient gets to surgery, you try medications first, so those must be reasonably effective as well?  Is that correct?


Dr. Vanessa Hinson:  Medications, I would say, in severe generalized dystonia, can be helpful to alleviate pain and some of the excessive contractions.  But, once a patient reaches a stage where they can’t sit in a chair or they can’t walk, they probably need surgery, and by-mouth medications are not going to be potent enough to relieve this problem.


Dr. Linda Austin:  Dr. Hinson, let’s talk about the focal dystonia in another podcast.  Thanks so much.


Dr. Vanessa Hinson:  Thank you.


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