What I actually have is Generalized Dystonia, but for the purpose of this entry, I am using the general all-inclusive term.
It has been something that I have been dealing with since my youth (first signs started around age 4) and it has always been brushed aside by various medical personal over the years (folks told everything from I’ll grow out of it, to I am doing it for attention), including by the Neurologist who diagnosed me with it – the first time I saw him he dismissed it (despite me showing him a video of it happening), it wasn’t until I saw him for the third time and had a “mini storm” in-front of him (it happened twice, once during the EMG and then during the NCT that was being administered) that’s when he took notice to what I had been trying to talk to him about.
Now, you might be wondering what exactly is Dystonia and why wasn’t it diagnosed sooner, why did it take so long for me to get a diagnosis in the first place. Well, that is the million-dollar question to various degrees.
In a basic nutshell Dystonia is a movement disorder that causes the muscles to contract and spasm involuntarily.
The longer answer is that it is that Dystonia is a neurological mechanism that makes muscles relax when they are not in use does not function properly. Opposing muscles often contract simultaneously as if they are “competing” for control of a body part. The involuntary muscle contractions force the body into repetitive and often twisting movements as well as awkward, irregular postures.
As to why it took so long to get a diagnosis, that is still something that I am not sure about, but it might be because there are approximately 13 forms of dystonia, and dozens of diseases and conditions include dystonia as a major symptom, including the porphyrias so some of the issues I had growing up, like my leg always bouncing or twitching outside of my control wasn’t enough for anyone to be concerned about since it was at the time my only outward sign of the condition itself.
Then why wasn’t it considered as I grew older? Well in that regard I grew to be able to hide some of the twitching and other issues that were happening with my legs. In basic fact, I learned to cover it up to various degrees by being active and not sitting around too much (being active wasn’t a complete cover, but it helped to mask the issue to various degrees for a time).
For me it didn’t become more of an issue until 2002 when it started to include more of my body, it had migrated from just being a leg and also a neck issue to involving more of my body. But again after a few different appointments, nothing was fund and I learned to live with it and mask as much of it as was possible to do so.
It wasn’t until 2015 that I started to have trouble masking all that was going on. I started having more issues that I couldn’t cover-up. I couldn’t stop or interrupt what was happening and I couldn’t predict when it would happen or how bad it would end up being at any give point in time.
I was sent to one Neurologist who noted on my medical file that I had trimmers, but other than that he had nothing else to report or say. The MRI that he had ordered of my spine and brain showed nothing remarkable. Save that I had developed Spinal Osteoarthritis. Which was a bit of a shock, enough so that I asked my GP at the time to refer me to see a Rheumatologist who from my research was supposed to be the person to deal with Osteoarthritis treatments.
That didn’t happen to put it bluntly and lead to me pretty much spending from 2016 to early 2019 having things get worse and worse to the point that I now need to use a wheelchair because the “mini” storms that I have. They’ve resulted in me breaking bones (my wrist twice) because they happen out of the blue and I can do the 1 2 3 floor at a moment’s notice and not be able to save myself from breaking a bone when I go down.
For general information on Dystonia (and its various forms), you can visit the National Institute of Neurological Disorders and Stroke which has a bunch of resources and information.
For specific information on Generalized Dystonia, you can find more information here, here or on the Dystonia Medical Research Foundation of Canada‘s website.