Re: 1A and 1B diagnosis

[Guest guest]

Sure.. more than happy to share more.. when I was tested my results

came back like this;

PMP22 sequencing -r (CMT1A)

MPZ sequencing -Postitive (CMT1B)

PMP22 allele 1- Sequence alteration detected: transition C ---> T

Nucleotide position: 195539

Condon position: 118

Amino acid change: theronine--> methionine

MPZ allele 1: Sequence alteration detected: transition G---> A

Nucleotide position: 612

Condon position: 93

Amoni acid change: glycine---> glutamic acid

A lot of of the medical terms I have difficulty understanding.. have

searched for the symptoms and those listed don't cover all of the

symptons my family has. I don't have the claw toes, though my mother

does and her mom and brother did as well.. I do have the high arches,

short toes and very wide feet. My youngest has one toe on each foot

that is clawed and the nail is curved.. he was born with little toes

that look like a cats claw.

I had an EMG back in 2000 along with the genetic testing.. and they

said I have no reflexes at all. According to the report " Abnormal

study compatible with diagnosis of severe degree of polyneuropathy

involving both lower extremities. " They had to hit me with the

highest shock they could give on the test before I felt anything in

my hands/arms.. and I never felt a thing on both legs.

I have studied what you said about what I had called the shakes.. and

your term of tremors would be better.. and I remembered waking once

and having tremors for almost an hour, I wasn't cold or anything

else, just having uncontrolable tremors.. I am going to inform my

neurologist of what has been happening.. thanks.

My youngest sons neurologist also noted a slight tremor in one of his

hands when I took him to see her last as well.

I agree with you.. maintainging a healthy diet is a great, almost

crucial idea, I finally began in January watching mine, desparate to

ease some of my back pain.. and along with helping me feel better in

so many ways I have lost some weight as well, not as much as I'd

like, but at least I feel better these days.

I have to tell you, after talking to many people ad doctors its nice

to meet people that actually know what CMT is.. I constantly get a

blank questioning stare when people hear we have Charcot-Marie-

Tooth.. all they grasp is " Tooth " and then assume something is wrong

with our teeth..

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