Charcot Marie Tooth Disease

[jdenley]

My daughter is 20 years old and a year and a half ago she began to not be able to stand flat on her feet because her achilles were so tight. From Jan. - May we saw neurologists and orthopedics that said CMT vs. CIDP vs. ?? She had MRI's EMGs and then by Sept. her left foot had developed a significant arch and her foot and toes looked like a CMT foot. In Sept. her right ankle was tight but her foot didn't look like the other one. In Dec. she had surgery on her left ankle/foot and at that time both the podiatrist and the orthopedic were surprised at how much the "good" foot had progressed in just 4 months.

She had genetic blood work run to rule out CMT and it came back negative but we were told she could still have it.
She had a nerve biopsy that came back with demyelination and secondary demyelination such as may be seen with axonopathy but it concluded it was not suggestive of CMT but did not exclude it.

Dr.'s said last spring they notice some atrophy in her hands and they occ. cramp doing small things like stirring.

These are my questions...
I have wanted to get a definite dx in case it is something like CIDP that has a treatment to slow progression but everything we are told seems inconclusive. Is that typical?

Does her rapid progression at her age still fit the CMT picture?

If it is CMT (which the podiatrist and neurologist say it is) what is to keep her foot from going right back into the position it was before surgery? She is still in a cast with no weight bearing but "they" say it wont happen again.

Any insight would be helpful. I have about read all I can read and still don't feel I know enough to make sure we make good choices for her.
Thanks.

[EZgoing]

jdenley, first of all, I sure hope your daughter is doing better and has found the surgery went well.

You said:

"She had genetic blood work run to rule out CMT and it came back negative but we were told she could still have it."

In case you were not informed (or for the benefit of others), the reason you were told that she could still have it, was due to the fact that not all sub-types of CMT have a commercially available DNA test yet.. She may have tested negatively, but only for the sub-types that are available at this point.

Getting a proper Dx. in this country, is not nearly as easy as it should be in my (and many others) opinion... Not trying to question your doctors, but usually with the EMG/NCV, family history and a nerve biopsy, they can 'usually' tell if it's CMT or not.

Your local MDA office should be able to put you in contact with a neurologist that is experienced in CMT to help give you a YES or NO Dx...

http://www.mda.org/

The CMT Association (CMTA) also maintains a list of doctors by state, that are experienced with it too..

http://www.charcot-marie-tooth.org/

I used to run an on-line support group for CMT (a personal problem came up and I had to turn it over to a very close friend), but I still help out now and then when I can. From what the members there have indicated, although not un-heard of, the rapid progression your daughter is experiencing is NOT typical of CMT, unless there is 'something' making a rapid progression.

Usually, CMT progression is over a matter of many years/decades.. not months.

Again, drawing on my experience from running that support group, there is nothing much going to stop the progression and many that have opted for surgery, have to have it again 2 - 3 decades later.. ALTHOUGH, very few regret going through the surgery... as the help that a good and experienced surgeon provides, is well worth it.. so they have said. I have not had any CMT surgery done myself.

IF interested, the on-line support group can be found at Yahoo Groups...

http://groups.yahoo.com/group/CMT-Support/

or

www.CMT-Support.com

You do have to be a Yahoo member to post or read their files and links sections, but not to read the archives and posts, as they are open to the public.

In any case, please let us know how your daughter made out and how the Dx. process is coming along..

Good luck..

Ez

[jdenley]

Daughter's surgery was 12/18/2008. The nerve biopsy showed no signs of CMT. Her recovery has been very slow. Just this week she was able to take a few steps in a tennis shoe. She walks with a boot. The slow recovery has caused weakness in her hips on down. Now her other foot has the CMT appearance. With a negative genetic blood test and negative sural nerve biopsy, I have no idea what is wrong with her. I had 3 neuropathologist read her nerve biopsy slides and all three said they saw no signs of CMT. (one of them worked at a prominent CMT research center.)j