| We're joined by Dr. Susan Baser, a neurologist at Pittsburgh's Alleghen General Hospital. Welcome! We have hundreds of questions for you, submitted by our 20/20 viewers. Let's begin with Irina who asks: "How early in childhood can this condition be diagnosed? What are the symptoms? My 3-year old constantly complains about pain in his leg and foot. What should I watch for and any tests that can be done?" Dr. Susan Baser at 4:34pm ET The first thing are there are genetic tests available for several of the genetically based dystonias. The vast majority are what are called idiopathic dystonia, and idiopathic means we don't know for a cause. The most common cause that we're aware of is traumatic. Trauma could mean anyting from a head injury to a stroke or a loss of oxygen to the brain. The genetically based dystonias are rate, but several can be diagnosed by a blood test. Typically in someone so young you have a very large differential diagnosis, and so the place to start in a person that age would be with your general pediatrician and then from there a pediatric neurologist. Moderator at 4:35pm ET Devra writes: "I recently met my biological mother who has dystonia. Is there any evidence that this condition may be hereditary?" Dr. Susan Baser at 4:38pm ET Again, there is a blood test available for two of the more common mutations in the type 1 dystonia. Now, the interesting thing is, patients can carry the gene and not have any symptoms, so even if the writer carries the gene for dystonia it doesn't guarantee that she'll have symptoms similar to her biological mother. Now, this is something just recently discovered. There was a study done about one and a half years ago in a Botox clinic for torticollis which showed that a significant number of patients had a positive gene test with no family history. The gene is dominantly inherited so you would expect that these patients would have at least one affected parent. It would probably be best to see your family doctor, get a good general examination and make sure that he or she does not find any neurologic abnormalities. So in summary, a positive blood test may not guarantee that you'll even develop symptoms, but a positive blood test is very helpful if you do have symptoms. Moderator at 4:39pm ET Betsy asks: "Exactly which types of dystonia are candidates for this type of treatment? What are the risks of this treatment?" Dr. Susan Baser at 4:46pm ET This surgery is really still considered experimental. There's only a handful of patients worldwide that have had the surgery for dystonia. It is generally believed that the genetically based dystonias benefit more from pallidal stimulation and the acquired dystonias benefit more from thalamic stimulation. However, number of the patients undergoing these procedures is very limited. The most important thing to remember about treating dystonia is going through a differential diagnosis to look for treatable or fixable causes of your dystonia. Dystonia can be categorized as focal, segmental, hemi-, and generalized. It can be responsive to Ldopa (Sinemet), as in dopa responsive dystonia, or it may not be sensitive to this drug. A whole variety of medications should be used prior to contemplating surgery. Commonly used medications include anticholinergics (artane, cogentin), muscle relaxants, benzodiazepines (i.e. valium, klonepin), and the newest drugs, GABA agents. Other drugs used include neuroleptics and experimental agents such as tetrabenzazine available in Europe. Other treatments include botox and intrathecal baclofen. If all of these treatments fail, surgery can then be considered. Dr. Susan Baser at 4:51pm ET www.medtronic.com is a good source to learn about deep brain stimulation for dystonia. An excellent nonprofit Web site is www.wemove.org!!! They can look at our Web site, www.allhealth.edu. Moderator at 4:52pm ET Judy Harvey writes: "As a student of neurology, I'd like to know more specific information about where in the brain probes were placed. Is dystonia an upper motor neuron disorder?" Dr. Susan Baser at 4:53pm ET Dystonia is a disorder between connections of the basal ganglia and cortical motor pathways. The electrodes are placed on the globus pallidus, blocking that over-active nucleus. Bounce at 4:53pm ET I have severe cervical dystonia which is managed with Botox injections and oral medication. Do you think that DBS will be taking the place of these methods sometime in the future? Dr. Susan Baser at 4:54pm ET Uncertain. Several trials are underway to determine the answer to that question. Moderator at 4:55pm ET Several chat participants wonder if antidepressants can exacerbate dystonia? Dr. Susan Baser at 4:55pm ET Almost every anti-depressant from the TCADs to the FFRIs have been reported to cause a variety of neurologic symptoms and side-effects, including dystonia in a very small percentage of patients. Judy Backus at 4:56pm ET Could nervous "ticks" be relieved by deep brain stimulation? Dr. Susan Baser at 4:56pm ET Studies are also being done in this area. For example, tics are frequently related to obsessive-compulsive disorders. A model of obsessive-compulsiveness has been developed in dogs. Brain stimulation in certain areas of the forebrain can relieve obsessive-compulsive symptoms, which may be in turn related to some tic behaviors. So these studies are underway. Justin Green at 4:57pm ET Hi, I am a student considering the field of medicine to study in college. I was wondering if you believe that stem cells and gene therapy could help someone like Ed and if not where do you believe that the cure will come from? Dr. Susan Baser at 4:59pm ET That's a tough question. First off, I think stem cells show great promise in the treatment of many neuro-degemerative diseases, but the field is still early in its development. Ultimately, many of these diseases will be treatable once the genetic defect is discovered and altered. It's a very exciting field for research in the future. Most importantly, the FDA has still not approved pallidal stimulation for either dystonia or Parkinson's. Advocates for dystonia patients should lobby the FDA to obtain progress on this issue. Sherall Donovan at 5:02pm ET Do you have any suggestions on avenues one could take for achieving help in funding for such a procedure? I have knowledge of a family with not one but two young people who have this rare form of dystonia and are meeting walls of resistance from the state funded ACCESS program in funding this procedure. It is heartbreaking to see that there could be hope for these girls but for lack of funds. Dr. Susan Baser at 5:03pm ET The first thing is convincing the insurance company to do it, and in Ed's case we convinced them to do it. An important point to bring up is the cost of repeated hospitalizations far in excess of the stimulators, giving them copies of current case reports and literature of successful outcomes in other patients who have had these procedures, having the Dystonia Foundation back you up with a letter can all be helpful ways of achieving your goal. francesca at 5:03pm ET what about nerve damage due to stroke? can your treatment help? Dr. Susan Baser at 5:06pm ET Dystonia secondary to stroke is very common, typically it occurs days to weeks to months after the initial stroke, so it is a delayed response to stroke. It is the brain's attempt to rewire itself after the injury, and some misguided wiring happens. The results from stimulation are unpredictable in these cases, and typically aggressive medical, physical, and botox treatments should be undertaken prior to ever considering a surgical procedure. In an elderly patient who is a poor candidate for deep brain stimulation, other noninvasive surgical procedures could be considered, such as gamma knife, thalamotomy could be considered as well as stereotactic pallidotomy. All patients needs to evaluated on a case by case basis. Dr. Susan Baser at 5:11pm ET The www.wemove.com Web site has a service called emove where they'll update you via e-mail on the latest news on your disease. See also the Dystonia Foundation, www.dystonia-foundation.org, and the National Spasmodic Torticollis Association. |