Mitochondrial disease

[acaverly]

Does anyone know anything about this disease? Apparently my Doctor wants me to have this testing done, including gene testing.

[22cyclist]

Aclavery: It is a very complicated disease in Adults. It has to do with your mtDNA and nDNA and the mutations they make to the DNA after that. It can make changes to the brain, endocrine system, heart, skeletal muscles, kidney, and respiratory systems.

Depending on which areas are affected it can cause: loss of motor control, weakness, pain, GI disorders, swallowing difficulties, cardiac disease, cardiac disease, liver disease, diabetes, respiratory problems, seizures, visual/hearing problems, lactic acidosis, susceptibility of infection.

http://www.umdf.org/site/c.8qKOJ0MvF...al_Disease.htm

I hope they can find out something for you! I am sorry you are going through all of this!

Take care
Lisa
Moderation Team

[acaverly]

thanks for the link. I cannot believe after two years I have gone from being tested for ms to lupus to 6th nervepalsyand now to testing for this. I think they are just searching for something.

[polopuppy]

Mitochondrial disease is not a single disease but a group of diseases. There are so many different ones that I couldn't even begin to list them all here. Each of these diseases occurs when problems occur in the mitochondria found within our cells. The mitochondria are the power plants or energy sources of our cells.

Mitochondrial disorders can be a MS mimic and it is good that you neuro is testing you for some of them. Be aware though that is not as simple as it sounds and tests do not exist for all of the types. These disorders are very hard to diagnose, especially since there are so many variations.

I have had several tests that were suspicious for a mito disease so at some point I will need to decide if I want to do the muscle biopsy. My neuro team said that even with all the testing done, we may never know for sure. Treatment is sometimes initiated without a diagnosis to see if there is improvement.

My neuro and rheumatologist said that any time 3 or more organ systems are involved, they have to entertain the thought of lupus, a mitochondrial disorder or a metabolic disorder. Do you have multiple organ systems involved?

Here is a link to the United Mitochondrial Disease foundation that has a great deal of information. I found their site very useful when my neuro first brought up the subject of mito disorders with me.

http://www.umdf.org

Good luck!

[acaverly]

thanks and Iam not sure if I have three organ systems involved. Definitely eye issues, muscle weakness, high blood pressure pain in my hands, sometimes numbness in arms and legs. Opthalmoplegia too.

[acaverly]

Hi I just wanted to add that after first denying gene testing my insuance finaly approved it so will be getting that test this thursday. Doctor thinks it is mito disease but CPEO.

[acaverly]

Update

I did the genetic test and it will probably take a couple weeks yet to get results. My primary doctor did a bunch of tests again and has put me on synthroid, he said it will hep with my fatigue. These tests also said their is inflammation and antibodies so he is referring me to rheumatologist. Sed rate and c reactive protein and thyroid antibody levels were high.

[Shiela]

My doc did the gene and mito testing too. It came back with a gene defect so I went to Boston to see a mito specialist and he said, in his opinion I didn't have a mito disease because it takes to defective allels to say for sure and I only have one. He wouldn't say for sure though. It's a new and expanding knowledge base. If your test comes back with two defective alleles you might want to learn more about it from this site:

Get a copy of your test so you know which Gene and chromosome is affected and then you can research that.

[naphappy]

I had the testing last summer

I agreed to the testing last summer. The results came back neg. But in the write up the Dr wrote that it only tests for 6 types. So not a real def answer.

[acaverly]

Hi everyone,
I had the test before Memorial day weekend and we are coming up on uly and still waiting for results. I called the other day and they did not have them back yet. In the mean time my reg doc put me on thyroid meds , he said it may help with the fatigue. I am having more weakness in arms and legs and fingers hurt in the morning. My sed rate was recently at 67 and C reative protein was quite high too. My neck hurts all the time in te back of my head due to always raising my head to see because of the opthalmoplegia. also my primary tried to refer me to a rheumatologist but 3 have denied me, not sure if it is my insurance or some other reason.

Anyways we are leaving today for vacation, going to Ludington, Mi if anyone is familiar with Michigan. I hope to relax by the pool and enjoy the lake. I hope everyone has a great holiday. My family and I all rent cottages next to each other every year, about four of us siblings and our kids.
thanks for letting me go on here, even if I don't have MS or at least they don't think I do.

-Anne

[acaverly]

My genetic testing results came back normal. I have sent for my records and test results. I asked the nurse when she called, now what?, s She said well I guess you need a follow up appt. In the mean time my regular Doc tried to refer me to a rheumatologist but was denied by three based on my symptoms I guess. Now sending me back to a different nuerologist and ordering an EMG.