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Kitt · 12-18-2009, 04:51 PM

Quote:

Originally Posted by JonAlex

Thanks Kitt. I have an appointment with my neurologist again in February. I plan on asking for the genetic test at that time through Athena. When I saw him last, it wasn't a consultation so I didn't have much time to get details. He just said he suspects I have a heridetary peripheral neuropathy. I don't know which test would be appropriate, I only know I have a demyelinating neuropathy. My first EMG/NCV with a different neurologist indicated I had an axonal and possibly demyelinating neuropathy. So it's not clear to me right now which test to take. If you have any ideas I would be glad to get your input. I am assuming my neurologist is familiar with CMT but I don't know for sure. He is the head of neurology at the hospital I go to and he has been practicing for about 40 years. Believe me I am anxious to find out. Any help you can give from your experiences would be appreciated.

Jon

Hi Jon, It is very important that you see a neurologist who does know CMT. http://www.athenadiagnostics.com does have a program to help with the cost of DNA blood testing. It is expensive and very expensive if they have to test for the full panel. There are 22 + types that they can now test for and 50 types they have identified with no end in sight.

Do you have any family history of CMT or somebody with symptoms such as yours? If anyone in your family history has been diagnosed with CMT then that is the type you would have. Otherwise, I cannot guess as to what type you should test for. Perhaps your neurologist, if he knows CMT, could give you the answer. Even if you do not test positive for a type of CMT, that doesn't mean that you do not have it. It could be a type that they do not have a test for as of yet. CMT 1A is the most common type.

I was lucky, so to speak, as CMT is way back in my family history and I knew what I had before the neurologist said it. Remember too that symptoms of CMT vary greatly even within the same family. So symptoms that one has would not necessarily be what another has. Symptoms can become evident when you are young, old, or in-between. Or they might never be that evident. CMT is also misdiagnosed.

Remember that if indeed you do have CMT, there is no treatment/cure for it at this time. There is no magic bullet, pill, supplement or the like. You deal with the symptoms, try to eat healthy, exercise within reason, stay away from stress as much as possible - take care of yourself. CMT is progressive no matter what you do. I wish you well and I hope you can get to the bottom of it all.