CMT and spasticity

[Guest guest]

Hi, I am new here. I was diagosed with CMT in January of this year. I was told

that I have an unknown type. I had the DNA test done at Athena lab. No one in

my family has CMT. I am the only case that anyone has heard of.

I have always been on the clumsy side and never gave it much thought. Besides

tripping all of the time, I never had any other symptoms. My finger tips were

feeling numb sometimes and it seemed to be harder to walk in a straight line if

I tried.

I got pregnant and had my son (first child) in 2005. I had a rough

pregnancy. I got preeclampsia and HELLP syndrome at the end and had

to have an emergency C-section. The baby was fine and all turned out good.

In September of 2006, I began having severe leg pain. It was

a pain I could not describe. It hurt from my thighs to my ankles.

Just a tight unyeilding pain. I went to my primary care doc and he

said it was some type of neuropathy and referred me to a pain

management specialist. They thought I had MS. My reflex in my legs

is hyperspastic. In fact, that doctor said I was like a spastic

plegic. But they really thought I had MS. I had a head, neck,

middle back, and lumbar MRI done. It showed nothing. Everything

seemed fine.

I finally got referred to a Neurologist. She did blood test, EMG and nerve

conduction studies on me. That is were it pointed to CMT. The doctor said are

you sure no one in you family has

any history of neurolgical problems. I told her no one.

We had the DNA test done and the results say " this individual possesses a DNA

sequence varient in one or more genes tested in this panel, whose significance

is unknown (amino acid

change of unknown significance). The significance of this new

sequence variant may be clairified by careful reconciliation of this

molecular data with this patients clinical symptoms and family member testing if

appropriate. "

Since then my neurologist put me on Baclofen for the spasticity and

Lortab for pain. She gave me Cymbalta too. I took that and HATED

it. So I discontinued that. She has referred me to a physical

therapist also. I have my first appointment next week.

I have so many questions and noone to ask. My neurologist said she

has never seen anyone with CMT with spasticity. So, she is really

not much help. I want to know if my son could have this. On my test report it

says inheritance unknown. I guess I am a mutated gene??

My son's pediatrician said that we can test him when he is older that there is

no hurry to do the blood test. He is only 19 months old.

I have such fatigue. The pain is pretty much gone since I have been

on Baclofen. I do have trouble walking, but find that pushing my

sons stroller really helps! I guess I would like to know if anyone

has heard of someone like my case.

Any info would be great!

Thanks.

[Guest guest]

Hi,

Yes, I too " appear " to be the only one with CMT in my family. Matter

of fact, today my brother (adopted) and I were talking about this. I

was diagnosed with CMT as a child back in the 1960's - then there was

only " CMT " , none of the subtypes were known. It wasn't until I had an

adult baseline EMG/NCV in 1998 or 99 when I read those results and the

doctor's report about the normal test results with reinnervation,

which is indicative of CMT Type 2.

I have never had the DNA test; for me now, it's pointless. I chose

along time ago not to have children. Through my research I came to

discover CMT has been in the 'human family' for about 6-7 million

years and has mutated along with the development of our ancestors. I

have also learned that CMT can affect members of the same family in

different ways, and in different stages.

At one point in my teens and early college years I had terrible

problems with spasticity. Bad enough that at one point I was

rediagnosed with Frederich's Ataxia, but later that was taken away and

I was back to CMT. At that point I took Valium for the spasticity.

Nowdays I do not have any spasticity at all, and haven't for about 30

years. Not sure why, but perhaps my exercise programs these years has

helped with muscle strengthening and control.

Did you know babies as young as 6 months can be DNA tested?

~ Gretchen

[Guest guest]

Wow! You sound exactly like me. I was told I had MS after about four years of

testing (never had a plaque so I was skeptical the whole time). I suffered from

a dragging left leg which I noticed first while playing tennis. My symptoms

varied througout the years....first showed up in my early 40's but looking back,

I always had a weak left foot. I now know it was CMT when I first noticed when

I took ballet as a young child. I could never get on " pointe " on the left foot.

Today, I cannot walk on the heels or the balls on either foot and suffer from

drop foot, now on both sides. Overall, pain is not too bad for me. My chief

complaint is a weak back, caused from an abnormal gait. I cannot wear heels of

any kind

but do not currently wear orthotics. I am sure that is in my future. I have

bouts of weakness which I describe as a " nausea " in my legs.

I feel strongly when this happens that the disease is rearing its ugly head and

causing further deterioration. Fortunately, this

does not happen daily. No one in my family has this and my two grown children

are not affected at all. As bad as MS is, at least it is not hereditary. When

I was told I had CMT instead of MS (and I had been taking injections on a daily

basis for three years!) I wanted to hug my neuro since I felt like CMT wasn't

near as bad as MS. However, she said that CMT is not a walk in the park and

that I had better listen to my body, especially my feet.

My previous neurologist who had given me the MS dx, had never listened to me and

just insisted that I should take injections of an MS drug and move on. By a

miracle, I had what I thought was a mini stroke one day in the dentist office

and my neurologist had rushed

me in for an MRI. It was then that I discovered there were no plaques on the

brain (which you must have for an MS dx) and I went to my current neurologist

here in San Diego, Dr.Jody Corey-Bloom. I adore her and am so grateful that I

was my own advocate and sought

another neuro. She diagnosed me with CMT 2 and I also have what they call

migraine equivalents. I had suffered from Migraines in college briefly and I

guess, they can have lasting effects that show up periodically in other forms,

rather than headaches.

Fortunately it is not a serious condition. So....yes, CMT can be a pain at

times but I just have to tell myself there are diseases far worse and if this is

the worst I get dealt with, then so be it. Good luck.

Karon

[Guest guest]

Hi Gretchen,

Thanks for writing. I am aware that they can do the DNA test on my

son now, but the need 30ML of blood to do it. That is alot of blood

for a baby I think. I am going to wait a little while, till he is a

bit older.

Glad that your spasticity went away for you. Do you go to physical

therapy? I have my first appointment this Friday.

Thanks again.

[Guest guest]

Hi Karon,

Thanks for writing. The more I read about you, the more we do sound

alike. My left foot also was the first to give me trouble. That is

the foot that my toe is always hitting the ground with. I was also

in ballet as a teenager and my left leg was always a problem with

stretching,etc.

You sound like you have a great neurologist! Unlike mine, who said

she has only seen 3 patients with CMT in her 20 years and would have

to do research. So, I was actually thinking of going somewhere else,

but what else is there to offer really for a CMT'r? Do you go to

physical therapy? I have my first appointment this week.

Thanks again and take care.

[Guest guest]

Hi ,

Yes, I have been to many different sessions of PT in my life. The most

recent followed back surgery where I got hooked on Aquatics for

exercise and had an individual workout program set up for me

initially, which I have added to with the help of 2 personal trainers

and 1 Certified Aquatic instructor.

Prior to that I had PT after a fall from a horse, a car accident, and

a few other 'mishaps' lol. The initial PT I had as a young teen was at

my home and I hated it. But PT came along way through the years and

the ones I have known have been/are extremely knowledgeable, helpful

and know CMT.

~ Gretchen

[Guest guest]

Hi,

I hope you get this email or post.My first signs of CMT were pain

from knees to ankles, a year later mid thigh to ankles. I'm the

first in the family to have symptoms. I was tested by DNA and have

CMT-X.My doctors thought early on I was seeking drugs and never told

me that I might have CMT, I changed doctors and found things my

family and neuro dr. never told me.But now 6 years later have chronic to severe

pain in arms and legs, along with muscle wasting.

Your post is the first that I have read(I have read alot of posts) that sound

just like me!I have hyperflexion in knees only, every where is hypoflexion. I go

to the MDA at Duke in NC. I'm not tring to be negative or depress you. If you

have any questions, you can email me

at havensoap@....