Anyone with CMT Here?
 

Hi, I'm a new member, having just found this site from a Google search. I'm also a member of the Board of Directors of the Hereditary Neuropathy Foundation.

I have a form of CMT2, a disease which involves a genetic polymorphism in the MFN2 gene. The MFN2 gene is a nuclear gene involved in creating the outer membrane of mitochondria. Thus, CMT2 is a mitochondrial disease and it primarily affects the peripheral nerves.

CMT2 is an insidious form of PN that slowly destroys peripheral nerves and its effects are most prominent below the knees and in the hands. At age 25 I had big, meaty calf muscles. By age 32, I stated to notice that something was wrong down there as my calf muscles seemed to be shrinking and weakening. It wasn't until age 38 that the genetic tests had improved enough to provide a CMT2 diagnosis. Now, at age 40 there's not much muscle left on my calves and my calves are extremely weak.

I notice that this board is filled with talk regarding mitochondrial diseases and their affects on PN. So I'm excited to have found this site and look forward to participating in your discussions and learning from your posts.

Hi. I just wanted to welcome you though I am sorry for your struggles and pain. This community is very educated and warm. I don't know about CMT but I am sure someone will come along. Also you can do a search at the top here and threads will come up with that topic.

Welcome to NeuroTalk:

We do have a member, who has been absent lately, and here is her thread:

http://neurotalk.psychcentral.com/thread121564.html

We get a few here and there at our introduction threads on the main forum index, but they don't often post here.

If you search "Charcot" in our search field in the upper right, on the main PN forum here, you'll find it mentioned quite often.

Getting the testing appears to be dunning for many people, and I wish it weren't so expensive. I suspect many visitors here have this and need to rule it out.

The information on mitochondrial functions and connections to various diseases, is heating up quite a bit now. The autism community has fueled some of it, but also drug toxicities affect mitochondria as well. (Statins for example and some antibiotics). Whenever I find a new paper or report I put it up here. I do believe that some PNs are damage to the mitochondria and may be helped with some of the mito support nutrients.

Your input regarding CMT is always welcome.

Daniella and MrsD: Thanks for the welcome.

MrsD: Do you have any thoughts on supplements for genetic neuropathy caused by defects in mitochondria (i.e., CMT2)? My understanding is that most of the supplements that you recommend are mainly for diabetic neuropathy patients. But I'm curious as to whether there could be any benefit for CMT2.

BTW, I should mention that I had the Athena test three times before a genetic defect was discovered. Athena is constantly improving the test to test for additional genes that are associated with PN. Further, I understand from my discussions with the lab director at Athena that they have just completed a study to classify genetic polymorphisms of unknown significance in CMT-associated genes as either disease causing or begnine. So PN patients who haven't had the test in a few years may benefit from re-taking the test (especially if their insurance will pay for it).

It would be nice if you could put this information up on that link I gave you to our subforum. The subforum is where we are trying to store informational posts. It is so hard to organize all the stuff that happens with PN here, with all the causes and treatments!

There was that study on Vit C...which I believe did not pan out as expected.

I don't think CMT has had the funding to do major studies with the nutrients for mito support. And that is very unfortunate.
At this time people can only try things. I know the mito patients do get a cocktail of CoQ-10 and carnitine among other nutrients.
I think we are at a cross roads of sorts between the empirical data and how to correct what is reported.

You might contact Kitt... she seems to have her own ideas about this subject, and she is more informed about CMT than I am. I see Kitt did log on recently, so maybe she will come on this thread. You have to post a little bit more to enable Private Message function. Not long now. I don't see that she has enabled email to be sent thru the NT system however.

You are correct at Vitamin C. That was tried in studies in both the US and Australia on CMT1 and neither test showed any improvement.

I can tell you that both HNF and the CMTA are currently funding research into both CMT1 and CMT2. But you are correct in that the funding is relatively small and the studies are quite limited currently. One of the CMT1 studies has identified three compounds (molecules) that seem to be beneficial to CMT1. Further studies will be needed to determine efficacy. A similar study is about to get underway for CMT2.

It's quite frustrating that CMT is a more prevalent disease than MS but the funding for research is a small fraction of that for MS.

Welcome and thanks for posting this info. My neuro is in the process of ordering the Athena tests and is also looking at testing me for CMT too. At present, I'm still idiopathic but several here have encouraged me to look into these and your post is timely in my case so I can't thank you enough.

Welcome
 

Welcome CMT2. I am currently awaiting test results from Athena for CMT. I was fortunate that my insurance decided to cover the cost. My neuro feels I have this, but I had also been taking Statins for a number of years which may complicate the initial diagnosis. I have been taking the mito supplements recommended by Mrs D and others for the past year. I have noted some symptomatic improvement in my symptoms and have been able to be more active and noticed less pain with that activity. So, it may worth trying the regimen that has been posted here.

On a separate note, I am a member of your organization as well. I have recently come across some exciting research regarding the use of Zinc fingered proteins in the treatment of PN. From my understanding, this may have applicability to the treatment of CMT. Are you or anyone in your organization aware of this treatment? Would be very interested in your take if so

Fabdou: Funny you should mention this. We just commenced a study of the possibility of using Sangamo's ZFPs to treat and possibly cure CMT. I should have more info on this in the next few weeks. Initially, Sangamo's existing drug, SB-509, seems like it could have applicability to treat CMT. Further, the ZFP technology seems to have the potential to permanently cure mono-genetic diseases such as CMT. But that application is probably years away. I'll report back when I know more.

EE03: I was idiopathic for six years before the tests had improved enough to find a genetic mutation indicating CMT. It's definitely worth doing the Athena test every few years as long as you remain idiopathic.

Unfortunately, during the time I was idiopathic, I was unnecessarily treated for CIDP, which was terrible. I did IVIG for six months, which did nothing. Then I did high-dose Prednisone for seven months, which actually made my PN worse. I also put on 30lbs, got heart tremors and sweated profusely. That was four years ago and I still have not lost all of the weight I put on (my face still looks chubby) and I still occasionally have an irregular heart beat. Shortly after all that, I did my third Athena test for CMT and it came back positive. If I had a positive test for CMT a year earlier, I never would have had to go through all that.

CMT2, Sangamo's ZFP pipeline is an area I've been reading and been very excited about. I recently posted some info here about their drugs and approach. Is it possible to contact you by email to discuss this further? I am very excited about this treatment pathway and glad that you are involved with research funding

The form was faxed off today for all of the tests so its just a matter of time here for me. I'll keep all of this info in mind and I'll also talk to my Doctor about it when I next see him. I have been through so many tests and some have really taken a toll on me that I'll be cautious about any further recommendations.