I have dystonia and they researched my dna, they found a mutiation that has never been found before. But other mutations in that same gene (named PDYN) has only been connected with the illness ataxia. They told me that they never found a conection between dystonia and ataxie and therefore they stop there investigation. So I looked on google. The first hit I found was this site, where people has ataxia and dystonia. So maybe there are more people with the same DNA mutation as me. Or have reason to think there is a conection between those two illnesses. I also see some similarities between ataxia and dystonie in symptoms.
This is what the hospital wrote about my dna:
c610T>C; p.(Tyr204His) (NM_024411.4); g.1961124(HG19) in PDYN gen
It’s true,many people diagnosed with Ataxia, are also diagnosed with Dystonia. These are separate disorders, but they can often overlap. It is always possible that someone, somewhere will have exactly the same mutation… To read previous discussions, type Dystonia in the search box (click the magnifying glass symbol to the left of your profile picture) xB
Over the years I have had many diagnosis due to a traumatic brain injury (TBI). Dystonia and ataxia being 2 of them due to issues I have endured regarding balance and significant falls. One of the many interesting aspects of the Ben’s Friends Network that I have found is that there are many correlations between certain symptoms and similar conditions. For example another diagnosis I have received is in regard to a condition known as neuralgia and although many of my symptoms can be seen as having a strong link to neuralgia, when consideration of all of the other symptoms that present themselves are taken into account, a direct diagnosis of the condition does not explain the whole range of symptoms. There are a few other conditions within this network that, again, show some very similar symptoms but as a direct diagnosis seem incomplete for my own situation.
I too have had the scenario of dr’s halting their investigations, which I have found very disconcerting to say the least. It is as if, in their minds at least, they have found an answer, no matter how incomplete it maybe, then sending me on my way without any further advice nor assistance. This is what lead me to Ben’s Friends in the first place. I was looking for my own answers. BUT (and this is a BIG but), Dr Google can be of assistance, but in using Dr Google we also need to filter out some of the information for ourselves and this can be a difficulty, especially for those of us with rare conditions. We start out looking for answers but sometimes we end up finding more answers than is helpful and we end up drowning in information some of which we may see as having a correlation, when in fact, there is not or our own correlation of symptoms is incomplete for a specific condition.
Due to this, and although my trust in the medical profession has been sorely tested, I would still recommend a full diagnosis by a trained medical profession and if possible someone who is well versed in the specific gene you speak of.