Charcot-Marie-Tooth Disease (CMT)
 

Here is an interesting story which appears in today's Health News headlines here on our forums:

http://abclocal.go.com/kabc/story?se...lth&id=7442797

Popular actress discusses her CMT challenges. Julie Newmar

Julie Newmar
 

Todd MacCullouch
 

Vitamin D
 

I cannot edit or change the above. Apparently the above may not be true. It is a reputable site but from another "very reputable site" for CMT, they say there seems to be no problem with Vitamin D. (Of course, there is with Vitamin B6). So, in saying that, who really knows. It makes a person really wonder about it all:icon_rolleyes::Head-Spin:

That is a very interesting article... especially for pointing out the complexity, of this disorder. I get the feeling, that many patients are not evaluated for CMT because of this.

I would like the Vit D elaborated. Do they mean D2? Which is what doctors typically use? Or D3 from sunlight and most OTC supplements?

There is this one paper on a kidney patient who happened to have CMT also, and a dialysis problem with calcium: It is the only paper that comes up with CMT and Vit D keywords on PubMed:

Sometimes when medical articles are made like this one, the authors search MedLine for other problems and will report even obscure papers, just for safety's sake.

I am reminded of a paper about GLA... (which is found in evening primrose oil), but is also the abbreviation for a toxin.
Papers searching for negative studies on GLA, (from evening primrose) found this toxin that shares the same abbreviation, and since then the link to GLA (from primrose) and seizures has been "cemented" and repeated infinitely on further websites and in papers.

Concerning Vit D... I found this interesting article about ALS and elevated calcium levels in the blood:

http://www.als-mda.org/publications/als/als3_4.html

So since we cannot find a definitive paper on Vit D and CMT at this time, having calcium serum levels drawn as well as Vit D levels might be a good idea. The only contraindication so far medically has been suggested for sarcoid patients.

At this time Vit D treatments in US are still substandard. And I personally suspect more PNers should be tested for CMT than they are now.

I specifically asked if it was Vitamin D2 or Vitamin D3. The CMT reputable site did not distinguish between the two and we know there is a big difference. So I remain confused and wondering about it all. You would think that they would have answered my question about the two. But they did not:mad: Go figure:(

I found this article concerning Parkinson's and Vitamin D. At the bottom of the article the study shows that low levels of Vitamin D do not cause Parkinson's nor that it will help prevent Parkinson's. http://www.webmd.com/parkinsons-dise...-to-parkinsons

More studies/research need to be done. Interesting at any rate. And I agree that more PNers need to be tested for CMT.

I posted this information in another thread but am reposting it here at the request of MrsD.

Anyone with idiopathic PN who has not had an Athena test in a few years should consider a retest today (especially if your insurance will pay for it). 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. As a result, there is a much greater probability today that the test will reveal genetic disorders than they did in the past and a much greater probability that Athena will be able to classify a genetic polymorphism as disease causing or begnine.

Interesting Article on CMT2D
 

An interesting article concerning research on a type of CMT. This would be for CMT2D. It also could have implications for other diseases such as ALS.

http://www.eurekalert.org/pub_releas...-srs070111.php

CMT2D is also called Distal Spinal Muscular Atrophy V.

Charcot Marie Tooth Syndrome
 

Here us a site explaining some of it.

http://www.cmtausa.org/index.php?opt...d=10&Itemid=41

Another site for Athena Diagnostics.

http://www.athenadiagnostics.com/content/index.jsp

Another site.

http://www.cmtausa.org/index.php?opt...d=10&Itemid=41

Genetics and Inheritance.

http://www.cmtausa.org/index.php?opt...d=10&Itemid=41

And another site.

http://www.cmtausa.org/index.php?opt...d=10&Itemid=41

You can have flat feet, normal feet, or high arches. It depends on muscles involved. Hands and lower legs and feet involved. Or just your lower legs and feet. Or just your hands. Or finally both. One just doesn't know.

Charcot-Marie-Tooth Syndrome, etc.
 

Here is another site explaining the difference between MS, MD, and CMT.

http://www.lindacrabtree.com/cmt/bas..._article2.html

CMT Medications List.
 

Medications List. Very important for people with CMT.

http://www.cmtausa.org/index.php?opt...d=68&Itemid=42

Another site.

http://www.cmtausa.org/index.php?opt...d=10&Itemid=41

Characteristics and Symptoms
 

Another site concerning Characteristics and Symptoms.

http://www.cmtausa.org/index.php?opt...d=10&Itemid=41[/QUOTE

Diagnosing CMT

http://www.cmtausa.org/index.php?opt...d=10&Itemid=43

Charcot-Marie-Tooth Disease, Find a Physician -
 

Resource Directory.


http://www.cmtausa.org/index.php?opt...arch&Itemid=40

CMT1 and CMT2 EMG/NCV testing
 

When the myelin is damaged (CMT1) the nerve impulses are conducted more slowly than normal. If the axon itself is damaged (CMT2) the speed of nerve conduction is almost normal, but the strength of the signal is reduced. All forms of CMT are either demylinating or axonal in nature. CMT is a multi-gene disorder and so there are many different genes which cause the disorder.

CMT affects the peripheral nervous system (PNS) and therefore it results in both motor symptoms (weakness and muscle wasting) and sensory symptoms (numbness). CMT is progressive and usually slowly.

Family history would be a great help in diagnosing CMT although CMT has been misdiagnosed as other diseases. Symptoms vary greatly even within the same family.

It is very important that you have a neurologist who is an expert in CMT and would be the doctor to see to oversee an EMG/NCV test.

DNA blood testing might also be in order to either rule in CMT or rule it out. They now have DNA blood testing for many many types of CMT but if it would happen to be a type that they do not have testing for does not mean that you do not have it. DNA blood testing is very expensive especially if they have to do the whole panel of testing.

Wow, Thank you.
 

Hi,
I'm so happy that I found this site, this is great. It's going to take me a bit to look through all those articles. I was diagnosed with CMT type 2 a few years ago, I'd have to go through my paperwork to find the exact year.
I had my blood DNA tested at the UBC Faculty of Medicine, and had lots of tests done within a two day visit. My Mother has it too, but not as bad as I do, and my son who's 21yrs old now still won't have the test done. He has a 50/50 chance of having it but he's a little afraid to find out I think, no symptoms for him yet at least. Mine are getting worse every year, It's hard to type with one shakey finger due to my hand muscles not knowing how much to tighten up. I now have a wheelchair, a walker, and my cane to get around. I don't go out much any more.
I also have Ehlers-Danlos Syndrome type 2 or 3, they can't make up their minds on that one, but my joints are'nt very stable, sometimes they can fall out of place with no warning, I have to be careful. Having CMT and EDS at the same time is not fun. It seems that any damage my body goes through, the pain sensations stay. I've had two minor knee surgeries, a couple of sprained ankels, and some arthritis, all still feeling like they just happened. The only pain meds I can take now is extra strength Tylenol, my body adaps quickly, It was hard to stop the narcotics, but It's been three years now. I also have major depression and anxiety issues. Too many other things to count as well. It's day to day,maybe I should have typed this somewhere else but I'm rather new to forums in general, and this took an hour to finish, I'm not to keen on starting over, oh well. Thanks again on all the new info, hope to talk with someone soon. Take care.

I do think it is important to have the testing, if other family members have this.

The reason is that some drugs can be avoided which may trigger symptoms in asymptomatic CMTers.

Here is one example:
http://www.theannals.com/content/ear...pdf+html?rss=1
This article is about a person with CMT who did not have symptoms until taking Levaquin.

Levaquin is a fluroquinolone drug in a family commonly used for infections. Cipro, Avelox are others. These drugs have been shown to cause neuropathy and nerve damage in some people.

One of the links earlier on this thread has lists of drugs to avoid with CMT. So anyone who is at risk should be tested so they can avoid further damage, or development of symptoms.
CMT is not well understood, and patients need to learn how to protect themselves, since doctors are often clueless about it.

Then there is the other side of the coin. If a person does not have any symptoms of CMT and they get tested and find out that they indeed do carry it then they might have big time trouble getting insurance. If they go to work for a large company, they would automatically be covered by insurance. However, with a smaller company or with an individual insurance policy, they will likely be unable to get insurance. I had that happen. Or there might be a rider put on for CMT. Well, that doesn't help either. And this can happen whether a person has arthritis or any other number of diseases. I've seen that happen too.

Personally, I would never get tested as you do pretty much know that you have it if it's in the family history and symptoms come along. You can then deal with the symptoms as needed.

Yes, nowadays we have the list of drugs that could be problematic. Some are really bad. But in other times there was no such list. That isn't good either.

There is just such a fine line as to what to do. It is up to the person to decide after getting informed on the whole concept of CMT. And CMT is not well understood except by experts who know CMT. Many, many other doctors have heard maybe 10 minutes on it and they do not understand it anyway and they always say that they probably will never see another person who has CMT. And they are probably right. Or - they could be wrong and have already seen someone with it but did not recognize it.

CMT is also misdiagnosed as many other diseases. So it can be a mess when it comes to finding out about it. I am certainly no expert on it although I've seen it first hand when I was five years old. I didn't have symptoms then. Not until my early 50's. I've seen it way back in the generations after doing research. That is for the type that I have.

Thank you for your post. In regards to testing, especially someone with no symptoms, it is up to the individual. It really is a personal decision. In another post I have mentioned about trying to obtain insurance, etc. with something like CMT or arthritis or a number of other diseases. However, he should still learn everything that he can about CMT. Knowledge is power.

I wish you well.

Vitamin D3
 

As the Moderator of the Swedish forum for CMT I've just this day managed to pass all tests to be a member, and I guess I've someting to add to the vitamin D3 discussion here: A friend of mine, a doctor in GP, told med to try megadoses of vitamin D3. So I made myself a lab-rat... ;) In Sweden the Goverment of Health issues say that vitamin D3 in blood shold be 75 nano.mol/litre or higher. Several test have shown that especially YOUNG people have a rate of vitamin D3 that is around 20-30 nano.mol/litre blood - and that it causes danger to the body. I tested myself and had 126 nmol/L. But my friend told me that I had to upper my D3- intake (no I do not sun-bath, because we rarely have sun in Sweden...) to at least 200 nmol/L. So I now take (orally) vitamin D3 supplements to upper my D3 cencentration in my system. 2000 IE (International units) per day is a too small doses of intake, so I've been ordered by my friend to take 50000IE 2 times a week, and then a capsula of 50 000IE once a week - to perhaps do someting positive for my CMT! My whife takes 5000IE/day, for her artrithis and arthroses, - and who knows where we will end? For ME - I have no other options but to try. I have opium as a pain killer from my doctor in neurology, but nothing else. But if I should take what the government says it would be like maximum 400IE/day. As for now I'm ok, am beginning to feel my feet again, believing that the D3-vitamin had someting to do with it. No, not B6 - that is nothing for us with CMT! But D3 is not THAT dangerus for us, perhaps even someting that we benefit from in the long run...?

Sp - just my 2 cents from Sweden...! :p (Sorry for my bad English...:p)

Your English is fine. Not to worry. I do not know how Vitamin D3 or anything for that matter can help you feel your feet again. There is no cure/treatment for CMT at this time as you already know I'm sure. Here is a site that is interesting.

http://www.mayoclinic.com/health/vit...xicity/AN02008


Thank you for your post.

D3 again
 

'Thank's for your answer! And YES I KNOW (!) that there is no cure for CMT! That is what I'm telling the Swedes *edit*. But - - that is why I try to test almost everything that PERHAPS can get me some kind of reaction to my CMT...:cool: Even if gets worse I know what NOT to try anymore...:) But it SEEMS - that Vitamin D3 in megadoses have a positive effect on fx MS, ALS, heart conditions and so on. At least, if your levels in blood when it comes to vitamin D3 is too LOW ( in Sweden <75 nmol/L) you'll end up having a lot more than you can handle in the long run...
My friend the doctor told me that it was muslim women dressed in black ("burka" in Swedish) that gave our doctors a hint, because they got a lot of problems with their health due to lack of sun, that is due to lack of vitamin D3. So my friend told me to TRY, not more than that! She gave med capsulas after my blood exam - capsulas containing 50000IE (!) to take 3 times the first week then one capsula a week.
I have an advanced form of CMT2A, and I'm now "taken off duty" due to that. BUT - I have a little hope, that perhaps this will benefit me, because it SEEMS (this is controversial!) like MEGA-doses of vitamin D3 can (...) fix damaged nerves, as the body itself can, when it comes to fx stroke: New connections in the brain can minor the damage and make it - not perfect again, but much better!
Me myself I don't know what to think, because this all seems like well...:rolleyes: But in MY life something positive is happening. And i hope the resurge(sp?) will tell me IF I'm wrong - or WHY it helps me like it seems to do...:) I'll keep you all posted on what is happening to me when I stuff myself with vitamin D3!;)
Once again, I apologize for my bad English... Swedish is ok, Danish and Norwegian too, even German, Hebrew and Greece (hä coinae dialektos), but we all have our weak spots...:rolleyes:
*edit*
Just my 2 cents. hopefully I'll get a lot of responses! :D

Hereditary Neuopathy with Liability to Pressure Palsies (HNPP).

http://www.hnpp.org/

Bumping up - Cold hands and feet CMT
 

:bump: :bump: :bump:

Cold hands and feet and why when you have CMT.

http://www.cmtausa.org/index.php?opt...15&Itemid=50#6

Here is a link to some new research advances that may be
implemented soon:

http://www.news-medical.net/news/201...e-horizon.aspx

May be promising for other demyelinating nervous system diseases too.

The article as far as CMT goes....
 

I checked with someone who knows more than I do about CMT. The person advised me that the article is interesting and said that I could quote what the person said. They mention the Po mutation, which is linked to CMT1B and CMTD13. It may turn into some serious help for those affected by those subtypes...and maybe more.

The person said that I was right in that it won't be any serious help next month, but they will add to a step forward, hopefully in the right direction. More testing on mice, the "newer" version that is human safe needs full testing, then the clinical trials will start...and if there is any indication of problems, they start over from scratch.

One issue that ticked the person off, and me as well, is all the 'mis-information' that they give out in such 'reports'...CMT not affecting longevity..but it DOES in rare cases. CMT is due to myelin issues...in type 1 it is...but not all sub-types.

Hope this clears some of it up as far as CMT goes.

You mentioned b6 somewhere, are you talking about the high doses of b 6 causing more problems? I am curious as my blood work showed my b 6 being pretty much non existent.

With CMT a megadose of Vitamin B6 (defined as 10 times the RDA) may be harmful if taken as a supplement. Otherwise, high intakes from food sources has not been shown to be a problem.