ok maybe i am not as cold as you are thinking..i can warm up on my own with alot of blankets or lots of sweatshirts... i am going to ask my neuro about these tests thanks so much

Yes, they can. CMT symptoms vary greatly even within the same family if indeed it is CMT. It has been that way in my family. As I said symptoms of CMT did not start for me until my early 50's. Symptoms in other members of the family were at age 11, 30 something, etc.

I also know a person whose father wasn't diagnosed until he was 82. His two chilldren (grown now) one was in the 20's and the other in the 40's (years of age). It does vary greatly.

Symptoms may never be that evident but CMT (certain types) can still be passed on. Or CMT might be misdiagnosed as something else. It still happens today.

DNA blood testing is very expensive; especially if they do the whole panel of tests. You should give them a call and see what they have to say. Insurance sometimes covers and other times not. Read their policy very carefully before having any testing done. Just make sure you understand it all. I have not had the need to do any DNA blood testing. That would give me the sub type and I have no need to know that unless there is a cure/treatment. At the present time there is none.

The most common testing would be for CMT1 and CMT2. At least that is what I think. Don't quote me on that. You can ask them. You do need an expert neurologist who knows CMT.

There are two supplements that may improve muscle metabolism, and they are used by athletes and body builders to some extent.

1) one is d-ribose powder. This provides ribose (which is not common in our diets) to the mitochondria (energy cells in our body's cells) to make adenosine. Adenosine is part of AMP, ADP, and ATP. Hence more energy may be had when using ribose.
We have posts about it here:
http://neurotalk.psychcentral.com/post708792-40.html

Ribose is available in powder form, and used by the scoop. 5 grams to start is a typical daily dose.

2) The other supplement is called creatine. Many athletes use creatine to build muscle mass and strength. This one you have to be more careful with. It may affect the kidneys in high doses, and you need to stay hydrated well while using it. Creatine is also a powder, and should only be used in moderation IMO.
It has been suggested also lately for people with neurological problems in the brain, like ADHD, Alzheimer's and Parkinson's.
Use only as directed on the label, and stay hydrated.
Start slowly if you decide to use this. There are many informational sites on the web you can consult for creatine.

The ribose really has no side effects, and it is also a slow working supplement. It may take a week or longer to manifest benefits. I find it very useful myself for weakness and stamina issues. I get my ribose from Puritan's Pride. But iherb.com also has it. I take it at night, as it helps me sleep.

When people engage in vigorous exercise often, sometimes they need some support. There are sites recommending ribose for fibromyalgia patients too.

An interesting study concerning creatine and resistance training for patients who have CMT. Granted it was a small study but at the end it said that creatine was not beneficial. However, I do not think that it would hurt a person with CMT either. I read that on another reputable site.

http://www.ncbi.nlm.nih.gov/pubmed/15221881

I could never tolerate creatine. I tried it when I was working out alot at the gym ..but it always gave me muscle cramping.

But some of our PD posters are finding it helpful for their muscle stiffness etc recently.

The ribose is really nice...however. I'd suggest it for people who have weakness, poor stamina, fatigue, trouble sleeping, etc.
Some papers are suggesting it for fibro pain, which IMO is similar to PN pain. It is a gentle boost without over stimulation or side effects.
It is pleasant to take...just mix in water... mildly sweet. Does not affect blood glucose levels in doses under 10grams. The study I saw didn't go higher however. I don't think massive doses are necessary, anyway.

My doctors have had me on D ribose for quite a while. L carnitine is good for muscle also. I take Carniclear.

PN/Spinal Tap
 

This response is directed toward whomever was advised to have a spinal tap after only an MRI and EMG....RUN.... At the very least call your Neurologist.

lamarzz06 - why is this a bad suggestion? i have had 2 mris, an EMG and eye tests? what else would be next?

I wondered this myself. Even my neuologist at Johns Hopkins suggested a spinal tap next IF I wanted one. He admitted it was likely to be unrevealing,and agreed with my decision not to pursue further testing,but it is a pretty standard follow-up to the EMG/NCS, brain scan, blood tests and skin biopsy. In case of a possibly treatable neuropathy, why not?

This is what a lumbar puncture may reveal:

http://peripheralneuropathycenter.uc...ar/index.shtml

Hi Susanne,

It is an invasive procedure, and all invasive procedures carry some inherent risks. (Google: lumbar puncture risks) The biggie (from my experience participating in chronic pain support groups) is (Google: arachnoiditis), but there are others as well. In articles about lumbar puncture, the risk (if mentioned at all) is stated as extremely rare, however in articles about causes of arachnoiditis, lumbar puncture is included right up there with spinal surgery/trauma (because it is a trauma. There is a risk any time the arachnoid mater is disturbed). Of the people I've met with arachnoiditis, about 1/3 got it from multiple surgeries, 1/3 from this procedure, and 1/3 from other causes.

My personal feeling/view is that a spinal tap is one of those tests (like a CAT scan) that I would only submit to if absolutely necessary and there were no other way of determining whatever they're looking for. They wanted to do one on me when I went into the ER for a level 10 headache (the only time I've ever rated pain that high) "IF I wanted one" because they were concerned about meningitis. However I did not present like meningitis (and knew it) so I was able to put them off for an hour while they tried an IM injection, and since the pain began to subside (to a 9) from that, they were able to rule out meningitis and backed off on the spinal tap. It took several more hours to bring the pain level down to where they would release me.

Whenever a doctor mentions a test/procedure followed by, "IF you wanted one" it kind of sets alarm bells off in my head that they're hinting that there could be something they're not telling me -- probably not to elicit undue fear -- but something they're not mentioning anyway. Any time I've pursued it, they've gotten that "uncomfortable" look before evading the question.

I think everyone with chronic spine pain and/or spine issues should read up and be aware of all the various tests & associated risks we may be looking forward to. Some sites (and doctors) do not mention all of the risks (just as they don't with some medications). It's not always easy, but necessary to make truly informed decisions concerning our care & health.

Doc

I have a cousin who has acrachnoiditis after having back surgery quite a few years ago. It is not a pretty picture as she has suffered severely ever since.

http://www.webmd.com/pain-management...-arachnoiditis

Another person married to another cousin had that dye thing done. He died. I would be very wary of any of it.

And the lumber puncture seems to be to find out if a person has an autoimmune disease, etc.

WOW Kitt,
 

After reading the description of Arachnoiditis......read like I was reading about myself.

All symptoms..... except do not have the uncontrollable twitching.

Causes......had dye used in Myelogram,
epidural steroid injections, nerve compression.
Spinal stenosis still bad; but lamina removed from worst area to allow spinal cord more space.
Many spinal procedures,
Also had lumbar spinal fusion as well.

Yikes....Have to wonder. Never been diagnosed with Arachnoiditis, but am under Pain Management with pain meds, including Oxycontin, Oxydodone, Vallium daily, and in order to sleep or even lay down without terrible pain, use Ambien CR every evening.


Gerry

but dont u think it is a necessary diagnostic step?

Not unless there is something to be gained that justifies the risk and there is no safer way of determining it.

There will always be the argument of whether doctors do too much testing or not enough. MrsD answered the question of why to do it (i.e. what it might reveal). I answered the question why not to do it. I'm not trying to tell anyone not to do it; I'm just pointing out a risk that I believe is downplayed/overlooked. The decision is between doctor and patient, but I believe that decision should be an informed one. The days of patient acquiescence are over. ;)

Doc

I was diagnosed with idiopathic PN a year ago. I've seen 2 neurologists, an ER doctor, a rheumatologist, my PCP (several times) and not one of them has suggested a spinal tap.

I suppose that my symptoms may be different, but I just thought I would chime in. I'm actually relieved that none of the doctors have suggested I have one.

Hi Boiler
 

I wouldn't do it, unless there was no other way to determine your condition. I did turn down two invasive tests. Lost a doctor over it too. I didn't like the risk, as I was already hurting. Didn't do EMG, and a myleogram, and no CT scan with dye either. I had one before and had a reaction to the dye used. I know alot of others may say go ahead and do the diagnosis, but for myself, I turn down pain at all costs. I survived and had surgery without those tests. No matter what you decide, look up all risks and benefits. I wish you all the best. ginnie

thank you guys for the thoughts my neuro just recommended me to a neuromuscular specialist to look further into genetic disorders/CMT possibilities because on my family history. I should get my new MRI results tomorrow and have a VEP tomorrow both which i suspect will be normal...thanks again! :) (also i still notice that heat tends to bring on tingles in my legs? it was 98 degrees today and i noticed it several times)

Well, if they suspect CMT, there is really no need for a spinal tap! I hv the tingles in my legs regardless of the weather, but the pain is much worse if I am cold.

got my MRI of lumbar and thoracic spine back - of course normal- now waiting for VEP results...anyone know what the test looks like if it is abnormal? just curious thanks!

Interesting thread. I have diabetic neuropathy and balance, gait, tripping issues that I figured was part of the neuropathy. Is it possible to get CMT (or something like it) that explains the balance, gait, tripping issues when diabetes is involved. Just got word yesterday that Dr wants a bone density test because she is concerned about osteoporosis. Tripping and loss of balance and osteoporosis are not good combinations. Not intending on hijacking thread, but just curious if there is a CMT connection or PN connection to balance, gait and tripping issues.

It is always possible.

CMT can co-exist with other conditions.

Diabetics do not all get neuropathy. I've seen quotes that 20% on the low side up to 30% of diabetics get it. The others do not.

There are some studies to show that diabetic neuropathy, as well as the other terrible consequences of diabetes like vision loss, amputation from poor circulation etc, only occur in certain people with a genetic tendency for it.

This new report says up to 50% and that is the highest I have seen yet:

http://www.uptodate.com/contents/epi...tic-neuropathy

This article gives the typical 20% statistic:
http://en.wikipedia.org/wiki/Diabetic_neuropathy

CMT is genetic, so the first place to look is your family history. Does anyone else have neuropathy and muscle loss, either early or late onset? The CMT would be a pre-existing, but perhaps unnoticed, condition, and then you developed diabetes unrelated to it. You can, as Mrs. D said, certainly have both.
Were you clumsy and uncoordinated as a child? Accident prone? Do you have high arches?
Testing for it is expensive, can be inconclusive, and there is no treatment, but generally a fairly accurate diagnosis can be obtained based on routine neurological tests, symptoms, and family history.

You can have any other disease as well as having CMT. A CMTer is not immune from having other diseases as well as having CMT.