Thank you all for all the information. as well as my other 3 weeks of injections I have left I think I will try orally also.
Can only do me good
Great site ....thank you so much :)

test results- CMT
 

HI Kitt-and others

I know this thread is getting old but I thought I would continue on with the same topic/issue. After 7 weeks I finally had Kaiser contact Athena labs for my results on genetic testing for CMT (evidently Kaiser lost them). The results were negative. My neuro at Kaiser was pretty postive that's what I had so this comes as a big shock to me. Athena did test for all available CMT variants. Question is, are the more types of CMT that are not available for genetic testing? I am at a loss now. The results of of the nerve condution studies: "Abnormal nerve conduction studies of the lower extremities and left upper extremity (three extremities) with electodiagnostic evidence of a severe sensorimotor polyneuropathy with mixed axonal and demyelinating featuers with more prominent findings in the lower extremities." The neuropathy is still spreading-up legs, tongue, lower arms, midsection. I am trying some of the suggestions of RLA and B12, but have only been on them about 1 month. The Dr. finally gave me a prescrition for Flexiril for the severe muscle cramping I have-which too has moved from toes, feet, ankles, and up through the top of calves. Any other ideas on what could cause such widespread nerve damage?

Thanks for all your help and insight-

There are 50 types of CMT identified so far and that was back in 2008. There is no DNA testing for all types and sub types. So, "possibly" it's a type which they haven't the ability to test for now.

Do you have any family history of symptoms such as you are experiencing?

I do hope that you get some answers so that you know what you are dealing with for sure. Take care and keep us posted.

It really is important to realize that there aren't tests for all the types. Even the ones there are tests for, such as HNPP, come with a disclaimer that the test is 85% accurate. That is a fairly large margin for error. My neuro at Johns Hopkins left it up to me to decide whether to pursue further testing, but I got the feeling that he didn't think there was much point.
A lot of your symptoms sound similar to mine, I have large and small fiber neuropathy, primarily axonal, probable CMT type 2. Beyond my arms, I do not have upper body symptoms, however, but the leg pain, muscle spasms, and disability are increasing, and creeping up to my hips. My skin punch biopsy did show the nerve fibers segmenting and breaking down at the upper thigh. Below that they were going and gone.
I am on 1800 mg. of gabapentin, and 7.5/325 oxycodone as needed, usually twice a day. I also take 5mg. Valium as needed for muscle spasms at bedtime, several nights per week.


It is terribly frustrating not to have a firm diagnosis, but that seems to be the reality for a lot of people here.

Hi Kitt-

Thanks for your quick response. Signs/symptoms (I'm not really sure which ones pertain to CMT or not): Age 51, high arched feed with claw type toes, NO reflexes in ankles, knees, limited in elbow (?); tingling and numbness of feet, lower legs, trunk area, tongue; hands evidently have loss of sensation but no tingling; burning mostly of feet, electric shocks through lower legs-feet especially; no feeling of hot/cold in hands, feet, lower legs, trunk; no feeling of vibration (Dr used some long metal thing) over most of body; feeling every now and then of water dribbling down legs; SEVERE muscle cramping of toes, feet, sides of ankles-lower leg, CALVES, now in area of upper calf right below back of knee (these cramps are so severe that pain can last for several days afterwards), cramping of fingers-not very often and not much the past year. Dr. said that feet have extreme atrophy of small muscles. Tapping over much of trunk/hip area causes tingling down legs to feet (more so when doing it over back/butt area). Jeez. I think that’s most of the neuropathy issues. I have pretty bad fatigue, light sensitive. About 4 years ago, started having problems swallowing. Felt like food/liquid would get "stuck" about halfway down (hurt really bad. Probably lost a few pounds from not being able to eat :). That was pretty bad for several years but has eased up for the past year and happens only infrequently now. I can barely walk in the dark. Even during daylight come close to falling very easy if I hit uneven ground. The tingling/numbess started a little over 5 years ago. Was seen by neuro at HMO then and was told nothing wrong. WOW things have progressed pretty quickly.

Adopted but did know birth parents. Unfortunately both died last year. Father has no family (from Europe and I never found out anything about his family), Mother-do have half-brother, but not in contact. I have 2 daughters, one with very high arched feet (26 years) and mild scoliosis, 15 year old-normal feet-but large (size 11 yikes!). Father I knew pretty well and did not exhibit any symptoms that I know of. My Mother lived pretty far away, and the only thing that strikes me as odd, was she had problems with her feet and walking. I would have said she had flat feet-and walked, excuse the comparison, like a duck (and with a cane in the last few years. She died at age 70-cancer).

I have a followup scheduled with neuro in early Sept. I got the news of neg CMT by email from the HMO Doc, which just said I was neg for CMT. Are there neuro specialist for CMT?

Sorry such a long post. If you have any thoughts I would greatly appreciate it.

Sincerely,

Judie

I am sure Kitt will respond, but this all sounds like more than enough reason to still suspect CMT, and as we both said, tests alone cannot rule it out. I was not adopted, but was illegitimate, with no contact with father's family, but do know that I have a half sister who wore leg braces for drop foot from childhood. My 27 year old son is now showing symptoms, but he and his sister always had the heavy, slapping foot tread characteristic of CMT.
It seems like whether you look backward, forward, or in a mirror, you are finding signs that this could be your problem.
Good luck.

Thanks Susanne for your answer.

I am just starting my adventure into neuropathy and it is very frustrating. The dr. did offer skin punch but said there was really no point in doing it-and would leave a large wound. So I have not had it done. The Dr has not offered up any meds except Flexeril at night for the muscle cramps (just got it called in today and then I read somewhere that Flexeril might not be the drug of choice for cramping in CMT)-and follow-up is in Sept. I did want to rule in or out CMT because of my daughters-so now who knows. The Docs have run every other known tests-except MRI's, which my primary care originally wanted to do of my spine.

Judie

Hi Judiesva, I agree with Suzanne C. The things you describe sure make a person wonder. In saying that though, I am "not" saying that you have CMT but it certainly makes a person wonder. Barely being able to walk in the dark stands out. Remember also that you can have normal, flat, or high arched feet with CMT. Mine always looked normal.

Perhaps this would be a time to find a good neurologist who is an expert in CMT. He/she would be a person to see. He/she might be able to help you in your quest to find out what exactly you do have. Please keep us posted.

Here is a medications list which could prove helpful for you.

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

I would still have the MRI of the spine if you haven't had one recently. It can't hurt. And a skin biopsy Is painless,leaves three tiny scars, one above the ankle, one above the knee, and one at the upper thigh, each 3mm or less, about the size of a tick. It is the test of choice for small fiber neuropathy, and should definitely be done.
Your doctor may have it confused with a nerve biopsy which is always a bad idea.
Kitt is right, you need a doctor who knows more about hereditary neuropathies.