[lynxgal]

What exactly can they tell from a nerve biopsy?

My daughter had her NCV done and her Neuro does not think either one of us has CMT suggested that I have a nerve biopsy and he thinks we have dysmyelination of the nerves not demylination.

I'm very confused......

[Kitt]

Originally Posted by lynxgal

What exactly can they tell from a nerve biopsy?

My daughter had her NCV done and her Neuro does not think either one of us has CMT suggested that I have a nerve biopsy and he thinks we have dysmyelination of the nerves not demylination.

I'm very confused......

A skin biopsy is O.K. but absolutely not a nerve biopsy. That is old school and is regretted by many with CMT who have had it.

Does your neurologist know CMT - really know it?

Why is it that he doesn't think you have a type of CMT? Have you had DNA blood test results yet?

[lynxgal]

Hi Kitt,

He said something aboutwhen you have dysmyelination you are born that way...with the damage already done. Whereas demyelination the nerves are healthy at birth and then the demyelination process starts sometime after.

When I try to search dysmyelination it just seem to be the same as demyelination...but what do I know...lol

Some of the reasons he said that he didnt think it was CMT was neither my daughter or I fit the clinical picture of CMT physically or on the neuro exam.

My NCV were between 17-34...my daughters reading was 15-20. Not sure if the differences in velocity had anything to do with it.

The doctor we saw yesterday is the children's hospital is the equiv. of my Neuro at our hospital...department head, teaching hospital...neuromuscular area. Both are very familiar with CMT I am told.

My neuro said my NCV indicated that type would be 1a or x. I received the results of those genetic tests and they were both NEGATIVE. Still waiting on the results of 1b and 1e.

Also, my sx are NOT typical of CMT. Yes I have the twitches and muscle spasms but I get them everywhere, including trunk and face. I have the weird throat spasms, hemifacial numbness, and more recently every, and I mean EVERY muscle on the right side of my body from toes to my neck and head went into spasm. UGH! Hope that doesn't happen again any time soon lol.

There are many other sx that don't seem to fit into CMT. My CMT specialist outlined that recently in a report to my neuro.

[Kitt]

Thank you for your post. I hope you do get to the bottom of this. It is exasperating.

Another thought: Even though you do not test positive for a type of CMT does not mean that you do not have CMT. There are around 22 + types that they can do DNA blood testing for but there are 50 types that are identified and there is no end in sight. You probably are aware of this. Thanks again

[BEGLET]

Of course wait until you get bloodwork back on the CMT..... if it is negative and they have processed thru the other available blood tests for inherited PN - then I'd go after a biopsy.... there are many types of inherited PN's - CMT, HSAN group, etc..... if they know what you are dealing with wlll course save you wasted treatents, offer possible solutions, and also help with the prognosis and possible progression of the disease, helping you know what to expect..... they may also take blood from you and other family members if they cant determine the type - to help them identify a new form.....

On the biopsy - I had a sural nerve about 9 years ago - I dont know what gold standard to get same info is today - mine showed exactly the extent of both large and small fiber loss, the type of fibers affected (mylinated and unmylinated) - the degernation of the axons - schwan cell formation, etc... its without a doubt the most comprehensive and objective test I've had since the disease hit. (they also do the typical constant NCS and EMGS but for me - they have just showed the progression of the disesase - which they told me was coming from the biopsy - they were right)....

Hope they can easily diagosis you from blood work - but again - there are a number of inherited froms pn out there still be be discovered.... hang in there!

[Kitt]

Originally Posted by lynxgal

My neuro said my NCV indicated that type would be 1a or x. I received the results of those genetic tests and they were both NEGATIVE. Still waiting on the results of 1b and 1e.

I read in one of your posts that your father was diagnosed with CMT2. (One of the 2's anyway). If that is true, then you would not have CMT1X because your father would have had to have passed that on to you. I don't know if you have any brothers but if your father had CMT1X, he would not have passed that to any of his sons, only to his daughters.

But the fact that you posted that he has CMT2 makes it impossible for you to have CMT1X as you have found out. Or CMT1A for that matter. Please post the results you get for 1B and 1E.

It really would only make sense that if indeed you do have CMT, that it would be CMT2 the same as your father. On the other hand, perhaps you do not have CMT. Thank you for your post.

[lynxgal]

Thank you for the replies!

Kmeb thank you for sharing that information!

Kitt....yes they did dx my dad with CMT type 2 before his EMG/NCV and then there was no other reference to the type in his file ever after the EMG/NCV.

I gave the results of his NCV to my Neuro and he said based on the NCV test on my dad he would did not have type 2. He said the conduction velocities were indicitive of type 1 as well.

So, my dad's orginial dx was wrong according to my neuro.

[Kitt]

Thanks for the information. Please post your results of the latest tests when they come in.

So perhaps your Dad does not have CMT? If that is true, it does make a person wonder what is going on. Thank you.