Mitochondrial disease and dystonia
Hi all,
I am in the process of being evaluated for mitochondrial disease. In the process I have met several adults with mito that have dystonia and dystonic attacks. The dystonia is typically generalized, but for one it started as cervical. I'm wondering if there are others here diagnosed with mitochondrial disease or who have been tested. I suspect that there are more adults and children living with dystonia who have mito than is recognized. I think this may be particularly so for children that have a complicated course of disease that leads to death. I know that this has happened with a few children that I met at DMRF with no diagnosis other than dystonia. I am wondering if these kids were ever evaluated for mito.
If you or your child has a progressive dystonia that occurs with symptoms of other systems being involved such as autonomic, gastrointestinal, respiratory, cardiac or other complicated neurological symptoms like seizures, neuropathy, joint pain, muscle weakness, migraines etc...and you are DYT1 negative then you should probably get evaluated for mitochondrial disease so that you can get treated and slow the progression of the disease.
Any thoughts on this would be appreciated. I really think we need to spread the word about this because I have a hunch that there are many out there with dystonia who have mito and are not diagnosed.
You can learn more about mito at http://www.umdf.org
Hope everyone is doing well and dystonia isn't treating you too badly.
Peace, Jen http://www.caringbridge.org/visit/jenelle
I am in the process of being evaluated for mitochondrial disease. In the process I have met several adults with mito that have dystonia and dystonic attacks. The dystonia is typically generalized, but for one it started as cervical. I'm wondering if there are others here diagnosed with mitochondrial disease or who have been tested. I suspect that there are more adults and children living with dystonia who have mito than is recognized. I think this may be particularly so for children that have a complicated course of disease that leads to death. I know that this has happened with a few children that I met at DMRF with no diagnosis other than dystonia. I am wondering if these kids were ever evaluated for mito.
If you or your child has a progressive dystonia that occurs with symptoms of other systems being involved such as autonomic, gastrointestinal, respiratory, cardiac or other complicated neurological symptoms like seizures, neuropathy, joint pain, muscle weakness, migraines etc...and you are DYT1 negative then you should probably get evaluated for mitochondrial disease so that you can get treated and slow the progression of the disease.
Any thoughts on this would be appreciated. I really think we need to spread the word about this because I have a hunch that there are many out there with dystonia who have mito and are not diagnosed.
You can learn more about mito at http://www.umdf.org
Hope everyone is doing well and dystonia isn't treating you too badly.
Peace, Jen http://www.caringbridge.org/visit/jenelle
Replies to This Discussion
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Permalink Reply by Rosemary on -
My Physiatrist bought mito up a few months ago and suggested that I be tested ( I have Generalized, DYT1 neg, and it did progress), now I know where that idea came from. Subsequently, I ask my MDN about it (Hermanowicz), he didn't think that is what I had- but he was worried about Stiffman's, which I am negative for.
Other than a failed neck surgery and innervation issues to shoulders (c5-6), causing rotator impingement, biceps tendonosis, and atrophy, I don't have too much other stuff other than a very, very difficult to treat thyroid (they have to check it every 2 months), and a tendency towards yeast infections, and UTI's (usually when thyroid is hypo or hyper). I guess I should note that despite a really, really good and complete diet (per dietary analysis) and taking in more than adequate B2 (riboflavin) and B5 (panthothenic acid), I run short on those in a metabolic analysis.
We also had an episode where my glucose jumped, even though I am the last person any one would suspect diabetes in. At the time I thought that the med Lyrica was responsible.
If I wanted to check it out further, where do you go? I live in So Calif.
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Permalink Reply by Deanna on -
I am waiting for that diagnosis to be offical by the Neuro. I had that long 3 hour, $1,000 memory test. It showed my main part of my brain and two other parts are affected. I was being tested in plans for DBS. That's not going to happen with how bad my memory is. I also have Generalized and I am so glad I am not alone feeling like Dystonia progresses. Yep, its getting a bit faster these days. The Neuro was shocked and very concerned when he saw I had Left Bundle Branch.He couldn't believe Mayo did nothing. Mitro is genetic. Only mom's can pass it on. Son's might get it but, does nothing to them. Daughter though, it passes on. I am so glad you posted.
Deanna
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