nerve biopsy - to

[Guest guest]

Hi ,

Just so you know, this is not medical advice, but first have the

EMG/NCV done on your daughter. It is far less invasive that a

muscle/nerve biopsy, and depending on the readings from it, results can show

either a demylenating (usually CMT Type 1) or axonal type (usually Type 2). But

I have also seen research on Type X which shows up as both! (Go figure) I had 1

and 1/2 EMG/NCV's BEFORE I had that biopsy. While I didn't know the results

then, it appears now that those first EMG/NCV's came back with normal results

(this was all in my early teens)

Of course the docs were puzzled (lol) so, THEN I had a muscle and nerve biopsy,

which came back with normal results. More docs, more puzzlement.

The nerve biopsy involves cutting pretty deep - or at least it was for me, and

it involved a hospital stay. Nerve biopsies are done on all kinds of

neuromuscular disorders - it is primarily a diagnostic tool - pointing docs to

" something " maybe. In my case it pointed to nowhere. Docs at this time were

thinking I had MD.

On that EMG/NCV for your daughter, she can be given a mild sedative

before, and it won't affect the test results. It was very scary to go

through one at 15; I imagine this can be frightening for younger

children. ish Rite is good with kids, but when she has this, stay right

there with her, and read up on the EMG/NCV. I will go dig up some info on it for

you shortly.

All these " normal " test results at the time were sent back to my

diagnosing doctor, an orthopedist, who diagnosed me just from watching me walk

up and down his hallways dozens of times and subsequently did the tendon

surgery.

The closest I have come to knowing " my Type " is having an adult

baseline EMG/NCV in 1999. The needles were smaller, the doc was more

caring. In the doc's report, he stated my results (all were in

the " normal " range, but showed some reinnervation - nerves rewired

themselves) which points to a neuronal (axonal) form of CMT - meaning a Type 2.

I have not had the DNA testing done, but lately I have been thinking

about it; I have done alot of talking to Amar at Athena about the types tested

for and now the axonal panel. Who knows, maybe this year I will get the DNA

test, but it is not a high priority.

I've had several MRI's - not for CMT, but one from a horse ridiing accident, one

from falling down the stairs, and one on my spine prior to back surgery. The

spinal one showed my slipped disc and spinal stenosis, the fall down the stairs

MRI showed I have enlarged brain ventricles (docs couldn't figure out why - lol,

and I didn't care. I didn't feel it was a CMT issue) That fall/MRI and the horse

accident resulted in concussions which I completely recovered from in time.

I hope this answers some of your questions; if I missed something, just ask

again And yes, ers, I do have CMT - besides the original diagnosis, I

was re-diagnosed in the 1980's while livingg in Wyoming - but that was done

based on a manual exam, and observation of my feet anad mild indentation in both

legs (about 3 inches) where the peroneal muscle should be.

Yes, I am trip occassionally, loose my balance now and then, get tired sometime,

have tremors, etc. But having this so long, I have learned to manage everything

and getting into aquatics has been a Godsend, so is dog walking, light hikes,

all wearing my in-shoe orthotics and good shoes,etc.

~ Gretchen