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 bkaren46 on -
Good luck Jen, The doctor you are seeing is a great doctor when it comes to Mito. A fresh muscle biopsy is a must, because it will tell exactly the deficiences and complexes you are depleated in. I have a deficiency in complex 1, 2 and 4 I pray that you finally get your answers.
Karen
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Permalink Reply by Jen on -
I have several symptoms that are consistent with mitochondrial disease. One of the suggestions for considering mito is if 3 or more body systems are involved.
Here are my symptoms:
movement disorder including generalized dystonia & dystonic attacks
severe gastroparesis requiring parenteral nutrition (TPN) (this is common in mito)
bowel dysmotility likely chronic intestinal pseudo obstruction causing severe constipation
peripheral neuropathy was spreading before I started the CoQ10 and L-carnitine
severe intermittent joint and muscle pain
migraine
heat/cold intolerance and low body temperature between 96-98 degrees F
tachycardia
dizziness on standing (with tachy & GI symptoms thought to be dysautonomia)
fatigue
muscle weakness
strabismus
intermittent ptosis on my left side
Many of my symptoms can occur in mito so it makes sense to test for it. Also porphyria and autoimmune diseases which can cause similar symptoms have been ruled out.
Because the knowledge of having mito could help in my treatment and possibly treatment or diagnosis of my family members I felt it was important to be evaluated for mito and I pushed for this with my doctors who agree that mito is a possibility.
You can read more here:
http://www.umdf.org
http://www.mitoaction.org
http://www.dinet.org
http://www.ndrf.org
Take care,
Jen
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Permalink Reply by hopeful on
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Your symptoms also sound a lot like Lyme Disease. This is the cause of my dystonia. And I also have 99% of the symptoms you listed and they are all caused for me, by Lyme Disease.
Unfortunately the testing for Lyme only has a 46% sensitivity (and to be deemed an accurate test the sensitivity cutoff is at 95%'; the tests for HIV by comparison, are at 99.5% sensitivity, a very accurate test). So with the faulty testing for Lyme, this means that only a Lyme literate MD can diagnose you with it or rule it out, using their clinical judgment.
Good luck!
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Permalink Reply by Jen on
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Hi again,
I just thought I'd update. My initial blood testing for mito has been negative but the doctor stated that this occurs in about 80% of patients with mito. I would like to get a muscle biopsy done sometime soon. We will probably go to Cleveland Clinic as they are familiar with the proper handling of the tissue to prevent problems or errors. It is also possible to get a clinical diagnosis even if the tests are negative. In the meantime I have started on Coenzyme Q10 and L-carnitine with some good results. My neuropathy, muscle and joint pain has improved a lot. I also have not had bad dystonic attacks since starting on the supplements. I will go back to the specialist in June.
I also just found out that I have to have surgery this summer to repair two incisional hernias that are painful and growing. Everytime I have surgery or anytime my body is overly stressed all my symptoms get worse and I typically do not go completely back to baseline. My concern is that I don't have enough of my dissertation finished and I worry about how long it will take me to recover. Hopefully things will go ok and I will recover quickly. That just usually isn't the case with me likely related to mitochondrial disease but we'll see.
Take care,
Jen
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Permalink Reply by bkaren46 on
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Hi Jen, That is what my mito doc also said about the blood tests and that was the case with my blood tests. The Cleveland Clinic is the best place to go for the mito biopsy. I am so glad Coenzyme Q10 and L-carnitine are giving you good results. I am sorry to hear of your up coming surgery and I understand what you are saying about stress taking a toll on us during stressful situations. I hope and pray for a speedy recovery for you and that the surgery doesn't take a really bad toll on your body. Maybe with the Coenzyme Q10 and L-carnitine your body will take the surgery easier. I am here if you ever want to vent and I know everyone else on this BB are there for you also.
Take Care
Karen
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Permalink Reply by beka on -
Jen - is it possible for you to have the surgeries under local anesthesia - doing both singly to reduce the stress and allow you recovery..
beka
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Permalink Reply by Jen on
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Currently my blood tests have been negative but this is true for 80% of patients with mito. Based on my symptoms and response to treatment I have a diagnosis of "Probable mitochondrial disease". I am in the process of getting a referral to get a muscle biopsy done at Cleveland Clinic. In the meantime I am benefitting quite a bit from the Coenzyme Q 10 and L-carnitine, so I will keep chugging as best as I can. You can keep up with me on my caring bridge site if you want at http://www.caringbridge.org/visit/jenelle
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Permalink Reply by Jen on
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Hi all,
Just an update. I had a muscle biopsy done during my surgery in July. I have preliminary results that show "minimal Type 2 fiber atrophy without vasculitis or inflamatory myopathy. Mild nonspecific ultrastructural changes were noted and further studies are pending".
I'm not sure what to think of it. I guess I need to wait for the rest of the testing. Let me know if you all have any ideas...particularly the significance of Type 2 fiber atrophy. I think this could be from disuse also, but I believe that it is also indicative of mito.
I am nearly fully recovered from my surgery but still very fatigued and just trying to get by. Check out my caring bridge site if you want at http://www.caringbridge.org/visit/jenelle
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Permalink Reply by beka on
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Welcome back Jen !
The diseases of muscle are classified into two broad categories:
Neurogenic or denervation atrophy, which means that the primary lesion is in the nervous system, either in the cell body of the lower motor neuron or its axons comprising the peripheral nerves.
Myopathy refers to the remaining disorders and includes various forms of dystrophic, congenital, inflammatory and other types of disorders.
Atrophy is seen selectively in type 1 fibers such as in myotonic dystrophy or in type 2 fibers as in a variety of unrelated conditions including disuse atrophy.
I would google "disuse atrophy" and see what you come up with...
Still thinking...
beka
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Permalink Reply by Jen on
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Thanks Beka,
I hope you are doing well. I still haven't received word on the rest of the results of my muscle biopsy. I am currently dealing with fevers that seem to be associated with a possible central line infection but all my cultures are coming back negative so I'm not sure what to think. Tomorrow I will prep for a colonoscopy and endoscopy as well as a tube change and botox injection into my pyloric sphincter. I just hope the dystonic attacks after anesthesia aren't too bad this time. We figured out that it is probably propofol that was/is triggering my post-op dystonic storms. I did better this summer without the propofol so hopefully this time will go better too. I'll try to update on here more often. It seems there are a lot of interesting conversations going on.
Thanks for the support.
Love and hugs,
Jen
http://www.caringbridge.org/visit/jenelle
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