Since you have a diagnosis of CMT, can I ask a few questions? (We don't have many CMTers or hereditary PNers here) I do read the CMT forums, however, can't find a few answers to questions.....I know these are kind of personal, but.... Did you ever have dysmenorrhea and if you had pregnancies, did you have issues with labor and delivery, and also how do you do with general anesthesia? Have you had any issues with drug intolerances, and which ones? If that is too personal, I understand. Thanks.

going on using Vit C in CMT patients... I'd ask your neuro about it.

http://lpi.oregonstate.edu/ss06/charcotmarietooth.html

and this older one:

Hi,

A person with CMT should never take a mega dose of Vitamin C. Some do thinking that it will help them.

There are three High Dose Ascorbic Acid trials going on in the United States. They are at Wayne State University, Detroit, MI, University of Rochester, Rochester, NY, and Johns Hopkins University, Baltimore, MD

There was/is strict criteria for these trials. For example, you could not have been taking very large doses of Vitamin C for a year or more, you had to be confirmed as type 1A as that is what these trials are for. And there is much more criteria as well. Some patients were/are being given a placebo and the others the Vitamin C. They do not know what they are getting.

I have heard that in other places, the patients seemed to stay where they were with their symptoms but as soon as they were off the doses, they went back to like you hadn't taken it at all. Others didn't do the same.

At any rate, it would be nice to find a cure/treatment but it appears to be a long way off. Dr. Shy did mention perhaps in 10 years I believe. At least our children/grandchildren might benefit one day. But, CMT is so very complicated. Thankfully though, there is much research of all kinds being done.

Thank you for your information.

Kitt

Hi. I don't have much to add just a hello and welcome to the boards.

I read up on the Wayne State program, and am aware of the Athena Labs.

I do know my issues are axonal, at least that is what my nerve biopsy indicates, so it seems like I would fall into CMT 2, but, I don't know...I look at CMT 1 and at times feel like I fit more in that category.

I had spinals for 3 C-sections...the general didn't work on my first one! I had uterine atony...water broke but no labor....then they induced and after 12 hours, no progression...back then when you had one section, any more were done as sections. I also had horrible dysmenorrhea as a young woman and no real pathology. One daughter has it but now we know NSAIDS work, so she has those. I had RLS as a kid, and one daughter, my sister and one cousin do too. My dad and his 3 brothers and dad all died between ages 43-68, and one family of 3 brothers, all second cousins died between 40-50 from sudden cardiacs. Something is going on in one branch of the family tree. I haven't been in touch with many cousins, and hereditary disease is not a topic that my extended family seems to want to approach. I do know one cousin had a child with hip dysplasia, which is occurs with CMT.

I can't take any SSRIs, any antidopimergics, any anticholinergics...it has been hideous trying to knock me out or sedate me. I had a uterine ablation in 2003, and they used a general, before I knew I had neuropathy, and I felt so bad, I went back and told them I thought I had a stroke....I swear I never recovered after that procedure! I had a total bottom out of my blood pressure and heart rate post op and they had to use meds to speed up my heart and raise my blood pressure...this was as they were walking me out of day surgery after I told them I was sick! They had more people in there it was almost a code. I wish medical professionals (and I am one) would listen when people say, 'I'm sick---don't take out that IV'. Boy, I never saw so many white faced nurses after 5 tries and still no IV back in...after I told them...don't pull it....leave me here...I am too sick to go home! BP was 70/40 and pulse was 40.

A year later I had PN diagnosed. It was diagnosed as sensory and autonomic...I just had a muscle biopsy that indictes myopathy as well...so it must also be motor, in my way of thinking? So if it is a CMT it encompasses all three kinds. It seems that autonomic forms of CMT are only recently being recognized. They may have always been there. Who knows. I know some groups of Scandinavians have higher rates of CMT and I am prehistorically northcentral Swedish on one branch.

Medication has been a huge issue for me.

I did tell my docs about Athena labs and the Wayne State program...I go to a research center which has done just about every test available except the genetic ones.....they are looking at how best to deal with the gene issues now. I have to pay some money towards my orthotics and when this is taken care of, then I can take on the share I will likely pay for Athena Labs. I guess the most you pay is 20% out of pocket if insurance won't cover? There is no need to repeat all the testing, biopsies, EMG etc, but Wayne State could use my info. I have a well document genealogy and a large cohort here that if it is an identified CMT, it would be of interest to them. Plus we are in the midwest, not far away.

I would like to know what I have, so my kids know before they have kids. A few of them are not reliably employed with stable insurance, and until every one is employed, I am not pushing them to get the diagnosis...one has definte symptoms similar to mine but far less severe, and the other has scoliosis among other neuro issues. A third one has neuro issues too, and some odd ones, like I have. One seems unaffected, at this time, but she crawled on the back of her wrists as a baby! Not on the palms, but the back of her wrists. I had her evaled for CP, never thinking it was CMT. She is in her mid 20's now and seemingly very healthy.

Thanks for the info and the support. Also it seems to me, that CMT is actually hereditary PN and visa versa....there seem to be several diagnoses for the same disease??

I am taking a general vitamin and sublingual B-12. I usually take calcium but my dog ate my viactiv! He is OK (dumb dog eats anything and survives). I suppose I should take magnesium as right now, I can't eat leafy greens. I am having esophageal issues which could be related to PN or a totally separate problem. My Vit. D level is normal.

Hi,

20% sounds about right that you would have to pay at Athena Diagnostics. Hopefully, if/when you get to the DNA blood testing, they can find out if you do indeed have CMT, one which they can test for.

This has been a long row to hoe for you. So many things going on. And there sure seems to be trouble somewhere in the branch of the family dying early with cardiac problems.

I wish you well and hope that you can get some answers to your questions. It would also shed some light for your children. Again, thanks so very much for your reply.

Kitt

Just jumped back on to say Athena Diagnostics is who my Neurologist used (along with her own testing) when testing began for PN.

--I've found that many physicians, even some neurologists, think that hereditary neuropathy and Charcot-Marie-Tooth are synonymous, but in reality there are numerous variation of hereditary neuropathies and myopathies, of which CMT in its various forms is only one permuatation (although it does seem to be the most common one, and more understood than many of the others).

There are variants of CMT, there are numerous kinds of hereditary sensory and autonomic neuropathies (HSAN), and a batch of hereditary motor/sensory neuropathies that are not under the CMT rubric, as well as numerous hereditary neuromuscular syndromes without widespread sensory involvement. If one looks at the ever-expanding listings at the Washington University Neuromuscular website:

http://neuromuscular.wustl.edu/time/hmsn.html
http://neuromuscular.wustl.edu/time/hsn.htm
http://neuromuscular.wustl.edu/time/hsn.htm

one could be excused for thinking that each individual case is a new entity unto him/herself.

The likelihood is that as the human genome continues to be studied, even more of these conditions will be identified, and many will be associated with effects and consequences beyond the neuromuscular . . .

Hi Again,

Yes, it is too bad that there aren't more CMTers on here. It is nice, so to speak, when they do come on.

To try and answer your questions, I had no issues with labor and delivery. As far as anesthetics, you would want to stay away from Suxamethonium (Anectine). It is a muscle relaxant and it causes the release of potassium icons (K+) from the muscle tissues into the blood. With normal people this doesn't really bother. But a person with a NMD may normally leak K+ so then it would be a further increase in those levels. This could lead to abnormal heart rhythums. There is a test that can be done preoperative to check the K+. Most of us CMTers are pretty relaxed anyway so no need for that type of drug. And there are lots of others out there now.

You would not want a spinal or epidural either, especially with CMT Type 1's as you could have enlarged nerves and it would be harder to get the needle in the right spot. Your anesthesiologist should be aware of this. These enlarged nerves are called "onion bulbs".

I've only had an issue with a sulpha drug. Otherwise, I have not had any trouble but then I do not take any medication unless I absolutely have to. Most of the time I just live with pain. At some point, that certainly could change. But, no issues there.

I should mention that CMT symptoms can come on when you are young, old, or in-between. Or they may never be that evident but yet the person can pass CMT on. Symptoms vary greatly even within the same family. It comes from my Mom's side. I had my children long before there were any evident symptoms (of course there were no gene tests then and so didn't know that I had inherited it either). Mine showed up much later in life. My Mom had her children long before her symptoms were evident and the same with her father. My Mom's brother's symptoms were there when he was 11. So there is just no way of telling how a person will end up at all. And we have to remember that there are many types out there but the Type 1's and 2's usually have that 50/50% chance for "each" child to inherit.

By the way, with the exception of Type 1X, which is inherited through the X Chromosome, CMT Type 1 is inherited in an autosomal dominant pattern. Type 2 represents axonal forms that are dominantly inherited and they make up about 1/3 of all dominant CMT cases.

Hope this helps some and as I say, you seem very knowledgeable and probably know a lot of this anyway. Thank you again. I do appreciate it.

Kitt