CMT? Makes sense, but what explains this mess?
 

Hi there, I'm J, 28yr old mother, and I'm just jumping in because I'm not shy!
I've been lurking quite a bit, though. :D

I could write a book about my years and years seeking an answer to my strange problems.
What's been confirmed?
- Narcolepsy, but basically severe CNS hypersomnia with most of the typical Narcolepsy hallmark symptoms.
- Charcot-Marie-Tooth disease, diagnosed one week ago, and it seems to make sense even though I don't seem to have family history, my mom's side is dwindling since only four people are still alive on that side. :eek:

Starting July 09, I woke up with a drop left wrist with numbness. Went to ER. They treated me as if they thought I either had a stroke or MS. MRI done in ER was negative. Sent to neuro for EMG/NCV. At follow up, he told me I regained 90% strength. See ya. It fixed itself.

Beginning in September, I got attacked in the arms. severe pain and horrible feelings, like someone was wrapping my fingers in rubber bands. It would stop when I'd spread my fingers apart as far as they could go.
-October, I noticed a patch of numbness in my left shin. Dragging my leg around when I walked was noticed at a wedding I attended - I couldn't dance because I couldn't lift my leg enough for that much mobility.

In late January, I took a downturn for the worse. Dropping things. Tremor. Difficulty with doorknobs, jars, etc., within weeks I saw my left hand turn into clawing pinky and ring fingers typical of (thanks to google) severe ulnar neuropathy with muscle wasting. I got my butt to a new neurologist.

He was baffled. Gave me Lyrica for pain which has helped immensely, even though the weight gain sucked and I was in the hospital for peripheral pitting edema. I just need to drink more water and reduce sodium, I guess.

The NCV/EMG confirmed my suspected ulnar neuropathy but noticed bilaral carpel tunnel I had no idea about.

I have a two-year-old son, and a stay-at-home mom. I wanted my arms working again. I thought surgery would fix it, but then, at another visit, he told me it never will. I was devastated.

Fast-forward to March: Increasing muscle atrophy in my arms and my hands are both not unrecognizable to myself. While standing and talking to my husband, the top of my right arm began to have the familiar tingling, and then went completely numb in minutes! I didn't call the doctor yet. It wasn't in pain.

A couple weeks later, I woke up with a foot drop. goodness, I'm so scared to go to bed anymore because when I wake up something seems to go numb on me.
This time, I went to the neuro. The foot drop has been around since right before Easter. He thought HNPP until he saw the results of my leg MRI and NCV/EMG. He came in the room, said, "We have a problem" after using a marker to draw two X's - one on the outer side by my knee, and one by my ankle.

"Your genes are activated," he said. He told me he's convinced I have CMT.

Here's my BIG question - isn't this progression pretty fast for CMT? I'm feeling tingles in my right leg, and have been for some time, and now they are getting worse and I really don't want that one to go, too.

The muscle wasting is beginning on the right side of my arm, too. That was fast.

I had a "body attack" yesterday and I didn't seem to get out of this one very well. I describe the body attack and my whole body stiffening up from pain. This is my first whole-body, actually, and it was proceeded by days of nausea, dizziness, stomach problems, flu-like ache, excess fatigue, headache. I was also hysterical.
Yesterday really scared me. I was incapacitated. I even had weird hearing, like it was coming out of a tin can. When I woke up this morning, the head pressure had turned into a dull ache, but I'm pooped.

I'm young, I'm scared, I'm relaxing today because of weakness and head pressure. I called my neurologist today, and he will see me Monday.

Is anyone familiar with CMT over here? I know you are not doctors and I'm not trying to diagnose myself, but appreciate experience and wisdom.

Thanks :)

I don't know if there is any possibility of Lyme in Florida, or perhaps you have been to an area with deer ticks.... If you can possibly get a sample to Igenex Labs, do it....lots of labs do not do the very labor intensive, specific testing Igenex does.

I do have to say, my PN started with some similar stuff to yours....and I have autoimmune issues. (I would not totally rule out my having more than one cause for my PN, either.)

You are also a common age for autoimmune problems. They occur with a peak in the 20's and again in the late 40s-50's. Have an ANA done as well.

Thanks! Actually, my doctor ordered genetic tests for Hereditary Neuropathy with Pressure Palsies before I developed the drop foot.

Athena Diagnostics sent a tech to my house to draw blood. From what I saw on the website, the blood tests should also show if I have CMT1 or not.

My neurologist told me he doesn't care what the lab tests say, he's convinced, and that there are so many different types of CMT and people present it in different ways. I know he's right.

Today, I go for evaluation for Physical Therapy. Maybe they will have an opinion.

Lyme Disease is something I thought about, but in Florida? Hm, I wonder if that could happen.

Oh, I forgot to add. I had blood drawn for ANA three times, all negative.

HNPP is the opposite of CMT1A. With HNPP you have a deletion and with CMT1A you have a duplication.

http://www.hnpp.org/

It is an interesting site on HNPP.

And yes, there are many types and subtypes of CMT. Does anyone in your family have any symptoms? You can have symptoms of CMT when you are young, old, or in-between. Or symptoms may never be that evident. CMT varies greatly even within the same family.

Your symptoms still seem way too fast for CMT. Hope you find the answer for whatever it is that is happening with you.

Actually, my brother has a problem with his feet and his gait and has since birth. He wore orthopedic shoes as a baby/toddler. I don't think my parents were able to find a diagnosis for him.

I have arches like you wouldn't believe. I have all the classic symptoms of CMT, it's just been progressing in a asymmetric way, sort of quickly. When I went to my physical therapy evaluation yesterday, the technologist asked me why this was happening, and when she looked at my feet she said "ohhh, I see".

There have always been problems with me tripping over my own feet, dreaded running in school even though I was fit. I guess I'll just wait and see what the HNPP results say and continue with PT.

If CMT is progressive and that turns out to be my diagnosis, will I continue physical therapy?

Thanks for your replies, by the way.

Just my opinion, but based on my experience with sick patients:

It is not out of the realm of possibility that 2 things can be co-existent.

You could have an infectious thing going, (like Lyme or some other obscure pathogen), and have a genetic issue. The infectious process may accelerate symptoms or confound them.

GBS can occur following vaccines, or infections with some pathogens. So you may have both, one or the other. GBS is fast in onset and progression (weeks/days). A GI upset food poisoning from uncooked/poorly cooked chicken can lead to GBS. Tainted fish, can also give a toxin type poisoning. (I will be making a post on these parasites in the Subforum soon.)

Yes I certainly agree. There can be more than one thing going on. Just because you might have one thing, that doesn't mean that you can't also have another. I should have posted that also.

And of course, as we know, GB is an autoimmune disease (body attacking itself). Here is a good site concerning it.

http://www.mayoclinic.com/health/gui...ndrome/DS00413

I know two friends who acquired it. One came out of it just fine. The other one could only move his eyes when he had it and he came out of it O.K. But he has never regained what he had.

Thanks for your input. I thought it was HNPP for a while, but I'm not bouncing back, seeing as how I have CTS in both arms (didn't know it), arched feet, slow muscle wasting on both sides (the left looked like it was going faster but it could be my imagination because I am left-handed).

Doc assumes the carpal tunnel is bilateral because of the muscle wasting. On my left arm, I had:
"Left median sensory conduction was slowed (46.4 m/s) with borderline SNAP amplitude... Left median distal latency was prolonged (4.0 ms) with reduced CMAP amplitude and borderline conduction velocity... Left ulnar motor conduction velocities were slowed across the elbow (17.7 m/s) with normal distal latency and reduced CMAP amplitude."'

That was back in early February and the muscle wasting has gotten worse since then. All this happened without injury.

So indeed, it may just be HNPP or something autoimmune with something exacerbating the symptoms.

My neurologist didn't advise physical therapy on the drop foot, he just ordered an assessment of my arm. He even told me PT would be pointless.

When I speak of these "body attacks", they come and go and I seem to bounce back within two days. Who knows, maybe they are severe panic attacks manifesting themselves physically, because I have a history of them for over 10 years.

Again, thanks for letting me vent on your board and for your suggestions. Perhaps I'll read more about EMG/NCV results in regard to HNPP. I am having trouble finding any new information about HNPP because I've been searching the internet for months about it.

Here is another site on HNPP which may be of help to you. Or perhaps you have read it before as well as the http://www.hnpp.org site.

http://en.wikipedia.org/wiki/Heredit...pressure_palsy

It certainly would be nice if you can find out exactly what you have. Thank you.

Possible LDN Improvement
 

To Ouchmyfoot:

It's a year later, but in case you are still somewhere on this board, I have progressed quickly and scarily for a few years now, just like you. In January, I took matters into my own hands, and began taking low-dose Naltrexone after reading about the help it provided to MS patients (I studied for more than a year, and consulted a pain specialist in La Jolla).

Had to go slow, as exacerbations occurred. One mg per month, until up to 4.5
Six months later, I have less pain (immediately), limbs stopped buzzing painfully while resting, less dropping things, better stomach issues, able to breathe better! I believe the LDN is slowing the progression of CMT1A, and possibly reversing some of my symptoms, slowly. Will let you know more as time passes.

4401pbc