Re: Results of testing for CMT Variant...

[Guest guest]

No variant here, but husband's Athena test was negative after being retested for

an inconclusive result, but his doctor is sure he has some kind of Type I

although he had previously been told it was Type II. Whatever, it was late

onset, age 60, and now at 78 he can barely walk but uses a scooter when we

travel.

Elinor

[Guest guest]

Thank you for the info Elinor. I am curious...hope you don't

mind...there were no symptoms until age 60? The results we received

from Athena said there was nothing to be gained by retesting at this

point since they have not developed any additional testing. Guess we

just wait and see.

Bless you both!

>

> No variant here, but husband's Athena test was negative after being

retested for an inconclusive result, but his doctor is sure he has some

kind of Type I although he had previously been told it was Type II.

Whatever, it was late onset, age 60, and now at 78 he can barely walk

but uses a scooter when we travel.

>

> Elinor

>

>

>

[Guest guest]

He had the feet: high arches, hammer toes, and the discolored legs with

abnormal reaction to cold. At about 60 he had an auto accident, was sent to a

neurosurgeon for possible neck surgery, and the doctor looked at his feet and

asked him to walk on his heels. Jim was very surprised not to be able to do

it.

When I remember, I call Athena and ask if they have any new genes. Once they

did, but the second test came back negative, also.

Elinor

[Guest guest]

Hello ,

I know your post is from a while ago but I thought I would respond anyway.

My daughter, age 8 had these results:

PRX Variant 1: Transition T > C

Nucleotide position: 1574

Codon position: 525

Amino acid change: Valine > Alanine

DNA variant type: A. acid change, unknown significance,

heterozygous

Inheritance: Unknown

I was told by the neurologist that since the PRX relates to CMT4F and is

recessive that if neither my husband and I test positive as carriers or have CMT

that they would consider her results as a benign polymorphism. If it is a benign

polymorphism it would be non disease causing and her symptoms would not

progress. This is what I am praying for but we will have to wait until my

husband's and my test results come back. Please let me know if you have found

any new information since your post.