Dystonia Bulletin Board

The DMRF literature says the cause of dystonia is not yet known. When you see reference to "dystonia is not a disease.." it is because they haven't yet discovered what is going wrong; they are able to identify the symptom, which is dystonia. A symptom can be a diagnosis when a disease cannot be found. For instance, in addition to Blepharospasm, I am currently diagnosed with "muscle weakness." That's not a disease, it's a symptom. Dystonia literally means "abnormal muscle tone" and is used to refer to sustained, twisting spasms.

True, a few dystonias are rather clear as to their issue, such as Dopa-Responsive Dystonia. DYT dystonias are obviously genetic, probably align to the description you gave, and they've figured out that Torsin A has something to do with DYT1.

But dystonia can also be a symptom of about 50 known diseases. On the secondary dystonia list, even vitamin E deficiency is listed as a cause for dystonia.

Paroxysmal dystonias may in fact be an ion channel disorder. That is a dysfunction in the pores (ion channels) that allow the passage of minerals between the cells. Some ion channel disorders are managed by stabilizing potassium, calcium, or sodium, etc.

Idiopathic dystonia (such as most focal dystonias) is when you have the symptom of "dystonia" and they can't find any cause to attribute it to. No other disease or injury, but no genetic confirmation, either. To say it is caused by erratic brain signals may be true for all idiopathic dystonia, or only some. But at this point it is still conjecture. To make assumptions without testing them, or to put all idiopathic dystonia patients in the same "box," is in my opinion, a big mistake.

I applaud Andy for finding something that works in his case, and passing along the information in case it could be helpful to others as well. Good job, Andy, and I hope you continue to get relief.