Currently the exact cause of Dystonia is not known; though a number of problem areas have been linked to the condition. Research has shown that there is a fault with a section of the brain called the basal ganglia. It is only in a small minority of sufferers that the condition has a clear cut cause.
Dystonia can appear on its own, secondary to another medical issue or as a result of medication – this is known as Tardive Dyskinesia. At the current time 80% of children diagnosed with Dystonia have it alongside a primary condition for example Cerebral Palsy. In adults the condition can be caused by a stroke and other neurological issues.
As research is progressing more genes are being found to be related to different forms of the condition. Studies have found that some cases of Generalised Dystonia are hereditary. However even if there is a genetic issue it does not guarantee that you will pass on the condition. It is thought that there is between a thirty to fifty percent chance of a child inheriting Dystonia depending on the mutated gene and type of Dystonia. So far over 20 genes have been identified in relation to Dystonia, with more being found all the time.
For more information on the genetic links to Dystonia I recommend http://www.dystonia.org.uk/index.php/about-dystonia/causes/is-dystonia-inherited
I often view The Dystonia Society’s website to check out the latest information on research, treatment and more. The other day I started reading an article on their website entitled The Basal Ganglia and Dystonia. It was an extremely intriguing article and for those of you who have not read it yet I suggest you do http://www.dystonia.org.uk/index.php/about-dystonia/dystonia-and-the-basal-ganglia .
The section that interested me most was on the role of GABA in Dystonia. At the moment the medical society think (but have yet to prove) that a shortage of an inhibitory neurotransmitter such as GABA could have an impact on Dystonia, as it seems that Dystonia is a failure due to inhibition. Many patients, myself included, who suffer from Dystonia are sometimes put on medications such as Gabapentin, Baclofen or Benzodiazepines. All of these medication increase the amount of GABA in the brain.
I was extremely interested to read this as I currently take both Gabapentin and Baclofen and have found both to have incredible effects on my spasms. The Gabapentin felt like a miracle drug when I was first put on it as has had a huge positive impact on my full body spasm and on my eyes! The Baclofen at the moment is having a fantastic effect on my neck spasms as well other spasms.
So I cannot help but wonder if I have found the answer I have been looking for to why I have Dystonia! I know that I will have to wait until the medical society have managed to prove if this theory is correct, but I cannot help but feel slightly excited. I am always trying to understand why I have Dystonia, and to have an answer would give me peace of mind. I may have a long wait ahead of me but I shall be keeping my fingers crossed.
Since Dystonia started affecting me nine months ago, I have often asked what caused it? I have accepted the fact that I have Dystonia, and why it is me that has it is no longer important to me. What does matter to me is what has caused it!!
I understand that Dystonia is caused by a part of the brain called the Basal Ganglia sending out the wrong signals, but what caused it to do that? Is it genetic, do I have a gene mutation, is it due to dopamine, have I fell and landed on my head to many times? It may seem like a trivial thing to dwell on, as after all knowing why/what caused the Dystonia, does not change the fact that I have it, all it may do is change my treatment plan. Yet it remains an important issue to me, I need to know what caused my brain to stop functioning the way it should.
What I cannot understand either is why the Doctors do not want to find out the cause? I had a CT scan done back in August which confirmed that there was nothing structurally wrong with my brain. Knowing that is great, it’s a relief and something that I can strike off as a probable cause. However beyond this scan no other test has been done, so how can they treat me if they do not know the cause? I know in many cases the cause is not always found, however surely the logical thing to do would be to test for gene mutations, trial me on levadopa etc, check that there is no cause which would require a different treatment plan, before trying and the majority of the time failing, to control my symptoms?
I try my best to avoid thinking about what has caused this, as I understand that I am unlikely to get an answer any time soon, but that does not stop me wanting it. All I can do is hope that a doctor will eventually test me for possible causes. Even if an obvious cause can not be found, I would be much happier knowing that they had at least tried!
So for now, I shall cross my fingers and hope that I will one day get the answers that I need. Until then I shall continue to press my doctors to carry out the tests, until they decided to listen to me.