NeuroTalk Support Groups - Charcot-Marie-Tooth Disease (CMT)

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Charcot-Marie-Tooth Disease (CMT)

Charcot-Marie-Tooth disease (CMT) is also known as Hereditary Motor Sensory Neuropathy (HMSN). There are many kinds of CMT (about 50 identified so far and there is no end in sight. They have DNA blood testing thru

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

for at least 22+ types so far. The testing has been around since 1991. Before that there were no types of CMT. It was just called Charcot-Marie-Tooth disease (CMT) or Peroneal Muscle Atrophy.

Symptoms of CMT can become evident when you are young, old, or in-between. Or symptoms might not be that evident. CMT symptoms vary greatly even within the same family. CMT is inherited although there are "rare" cases where there is a spontaneous mutation.

Much research is being done but it will take years for a cure/treatment to be found. Then it will take much more time to develop one.

Here are some sites which may be of help.

http://www.charcot-marie-tooth.org/a...t/overview.php

Here is a Medic Alert list which is very important for someone with CMT.

http://www.charcot-marie-tooth.org/med_alert.php

Here is an important link concerning anesthestics for a person with CMT.

http://www.lindacrabtree.com/cmt/ane..._article1.html

Hereditary Neuropathy with liability to Pressure Palsies (HNPP) is the opposite of CMT1A. With CMT1A there is a duplication and with HNPP there is a deletion.

http://www.hnpp.org/

I hope that this will be of help.

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

Yes, Julie Newmar has CMT. I read an article about her quite awhile ago. A milder form of CMT (some types are bad from the start) is mentioned in the article. That remains to be seen due to the fact that CMT progresses no matter what you do and no matter which type you have. It will be interesting to see how she does end up. Time will tell.

Symptoms of CMT can become evident when you are young, old, or in-between. Or they might not be that evident. But, CMT does progress.

Thank you for bringing this up.

Todd MacCullouch

Another one is Todd Muccollough who played for the Philadephia 76er's. It would have been nice if he would have been a spokesperson for CMT but that did not happen. He tried to do everything he could in order to "fix" the symptoms and be able to play but in the end, that did not happen and he had to give it up. He found out that CMT is progressive no matter what you do. This was a number of years ago.

http://en.wikipedia.org/wiki/Todd_MacCulloch

This is something I had never seen before. Apparently a person with CMT should not take too much Vitamin D in pill form. It can affect the PNS. What you get naturally in foods and the sun is fine. It is listed toward the end of the article along with drugs to watch out for. It does not say how much is too much.

http://emedicine.medscape.com/article/1173484-overview I found it interesting.

Quote:

Originally Posted by Kitt (Post 655970)

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:

Quote:

Hemodial Int. 2006 Jan;10(1):29-34.
Looking at calcimimetics impact on hypercalcemia of immobilization: hypotheses and a case study.

Roueff S, Saint Georges M, Chuong VT, Abbassi A, Guédon C, de Vernejoul MC, Ureña Torres P.

Service de Néphrologie-Dialyse, Hôpital de Saint Maurice, Saint Maurice, France.
Abstract

For the treatment of secondary hyperparathyroidism (HPTH-II) in dialysis patients and hypercalcemia in patients with parathyroid carcinoma. Calcimimetics are a new class of drugs approved in the European Community and the United States by the Food and Drug Administration that were designed to suppress parathyroid hormone (PTH) levels with a simultaneous reduction in serum calcium and phosphorus levels, and calcium phosphorus product (Ca x P). Hypocalcemia is a frequent finding during the correction phase of the HPTH-II with calcimimetics. By contrast, the appearance of a hypercalcemia has yet to be described. In this paper, we report a case of severe hypercalcemia of immobilization in a 40-year-old hemodialyzed woman treated by cinacalcet HCl for a severe HPTH-II (PTH>1,000 pg/mL). A kidney transplantation recipient 1983 to 1995, she was diagnosed with Charcot-Marie Tooth disease in 1991. She had multiple orthopedic interventions for kidney-related osteoarticular problems probably favored by the kidney graft and the immunosuppressive treatment. While she was receiving the maximum dose of 180 mg/day of cinacalcet HCl and PTH at 443 pg/mL, she needed to be hospitalized for a right hip prothesis. Two weeks after the intervention she developed a symptomatic hypercalcemia of 3.57 mmol/L which was resistant to several measures including lowering the calcium concentration in the dialysate, withdrawing all vitamin D and calcium supplementation and the administration of calcitonin. Her serum calcium level was finally stabilized in the 2.37-2.95 mmol/L by administration of a single intravenous dose of pamidronate. This observation illustrates that the pharmacological activation of the parathyroid CaR and other putative CaR on bone cells by calcimimetics did not protect against the occurrence of hypercalcemia of immobilization favored by a severe HPTH-II in a hemodialysis patient.

PMID: 16441824 [PubMed - indexed for MEDLINE]

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.

Quote:

Originally Posted by mrsD (Post 656470)

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 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.