You have said that her neuropathy is idiopathic. If she is not diabetic, many idiopathic neuropathies are actually hereditary neuropathies. They do not necessarily show up on an EMG/NCS, and the skill of the administering neurologist is a major factor. In my case the speed and amplitude are both reduced, but my skin biopsy showed a far advanced neuropathic process, and i had progressive numbness for 12 years before i went to a neurologist. I have axonal type 2 CMT. CMT also affects the small nerves which causes the loss of sensation. The loss of sensation and the death of the nerves precedes the muscle atrophy, but the clumsiness and tripping due to foot dragging are early symptoms.
It is a very idiosyncratic disease and everone's experience with CMT is different.
As Kitt has said, genetic testing might be wise, but negative results do not rule out CMT as there are types which do not have tests, and the tests are not 100% accurate.

Susanne C - because of the normal emg is it more likely that i would have type 2? Also did u have genetic testing or how are most people diagnosed. Finally, the symptom that made me finally decide to go to a neuro is tingling up my legs...is this a symptom? thanks so much

Type 2 does show up, not so much on the EMG, although mine was abnormal, as on the NCS, or nerve conduction study. The slower responses show axonal damage. Mine were both done by extremely well qualified neurologists, the second set at Johns Hopkins, required almost an hour of heat lamp treatment before I was warm enough for the test. Are your hands, feet, and legs often cold? This has been a long standing symptom for me.

Did they do a nerve conduction study, or just an EMG? I believe you have to have muscle deterioration before it shows up on the EMG, but I am not sure. Type 1 is often earlier onset than type 2, but my half sister wore leg braces from childhood for foot drop, so it really varies wildly.

Other than the clumsiness and tripping, I could never run or skate or anything like that, which seems to argue against your having it, restless legs and pins and needles were a symptom. Numbness started in my toes in my early 30's, scared me, I thought it meant diabetes, so I didn't mention it to my doctor until it passed my ankles in my mid forties. It is past my knees now at 50, so has speeded up lately, along with the muscle atrophy.

Most people are diagnosed on family history, although genetic testing is becoming more popular. It is also quite expensive and not fool-proof. My neurologist just kept saying it looked like a hereditary neuropathy. The axonal diagnosis was made immediately based on the NCS. I forgot about my family history at first because I have never been in contact with the side of the family that carries it.

I was sent for the HNPP test because I do have pinched nerves at all the arm joints, but it came back negative. I elected not to have the rest of the Athena genetic tests done because there is no treatment anyway, and there are not tests for all the variants. My 27 year old son has definite symptoms now, and would like me to get the testing, but our insurance has changed and I will wait until a year when I pass the deductible.

We are not saying that you have CMT, only that with an unexplained neuropathy in the family it is a possibility. May I ask how tall you are? Extreme height can aggravate and accelerate neuropathy symptoms. I am 6'2" and my son is 6'4".

I only put information from reputable sources. It is not my personal thoughts. This is if I am reading your post correctly.

I had a nerve conduction study and an EMG - both were normal. It is true i run almost everyday however i occasionally drag my feet when i run. Also YES i do tend to have very cold hands and feet (i can remember one time that my fingers were slightly purple i was so cold). However as far as height goes that is def not part of the equation , i am only 5' 1''.

When Suzanne C. mentions Hereditary Neuropathy with liability to Pressure Palsies (HNPP) it is the opposite of CMT1A. With HNPP you have a deletion and with CMT1A there is a duplication. If interested you can review the site.

http://www.hnpp.org/

In my case I could do anything and everything until symptoms appeared in my early 50's. At that time I still was doing many many things but as CMT progressed that changed.

DNA blood testing might be in order. Here is a site where you can get information on it.

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

You can also telephone them.

And as Suzanne C. said we are not saying that you have it in your family but there certainly is a possibility. Can your mother run, does she trip over every little thing, are there other symptoms which she may have.

http://www.healthline.com/galeconten...hic-neuropathy

You have probably seen this site.

Also, if you overdo anything especially exercise, you can exacerbate symptoms of CMT. I have not heard that height has anything at all to do with it. I know a number of people with CMT who are not tall at all including myself.

my mom does not have any symptoms as far as i can tell (but my grandma did not begin having symptoms until she was in her 50s). could the symptoms really show so late in her and so early in me and be the same thing?

Kitt, I do not think that height has anything to do with hereditary neuropathies, but studies have shown that it is a factor in other length dependent neuropathies, including diabetic neuropathy, so I was just curious. I should have been clearer. I think our symptoms may be worse because of abnormally long arms and legs and the length the weakened signals have to travel, but that is just speculation. My neurologist and podiatrist both mentioned it, and my other son was tested for Marfan's syndome because we are such anatomical freaks, and he has cardio pulmonary issues due to a caved in ribcage, 5+ on the Haler index.

Yes, Boiler, age of onset and severity of symptoms can vary wildly even within families. As I said I only recently needed canes and am considering bracing, but my sister had braces since early childhood. It can absolutely be the same thing and as Kitt said, your exercise regime may have aggravated it. Please realize that we are patients, not doctors, and we are not diagnosing you, just trying to help you categorize your symptoms and options.
I think the coldness may be highly significant. Is it accompanied by increased pain and do you have great difficulty getting warm?

hmm i dont think i have ever had increased pain when cold and when i get cold it can be like 70s outside i will wear like fleeces and still be cold sometimes. i know that u r not doctors but i appreciate your help any way. i looked at the athenas website...is there a way to narrow down which genes to look at (there are like 15)? also does insurance cover these tests typically? and how much do the tests cost? thank you

It really depends on what type of insurance you have. Ours is excellent, and would have covered all the tests, but we have switched to a high deductible HSA plan which covers everything after a certain point. Most years I would have no trouble meeting the $3000, with the gabapentin running close to $2000 alone, but it starts with the fiscal year in April, so this is only a 9 month year. Next year I will most likely have another spinal MRI and the type 2 tests.

Are you able to warm up on your own? Usually with CMT you need an external heat source- a hot shower or bath, electric blanket or heater to warm up. I admit to using my hair dryer a lot. The back of my thighs are particularly hard to warm up.