tests

[Guest guest]

There are three DNA blood tests available for CMT and a fourth in the

advanced experimental stages.

The tests are called:

-- DNA genetic screen for CMT Type 1A

-- DNA genetic screen for CMT Type 1 X-Linked

-- DNA genetic screen for HNPP --

and the one that is in the experimental stages is for CMT Type 1B and is

available at some of the University Medical Centres that are doing research.

These blood tests will NOT identify the other 20 or more types of CMT.

http://www.geneclinics.org/profiles/index.html

DESCRIPTION: Charcot-Marie-Tooth disorder (CMT) is an inherited neurological

disease characterized by a slowly progressive degeneration of the muscles in

the foot, lower leg, hand, and forearm, and a mild loss of sensation in the

limbs, fingers, and toes. The first sign of CMT is generally a high arched

foot or gait disturbances. Other symptoms of the disorder may include foot

bone abnormalities such as high arches and hammer toes, problems with hand

function and balance, occasional lower leg and forearm muscle cramping, loss

of some normal reflexes, occasional partial sight and/or hearing loss, and,

in some patients, scoliosis (curvature of the spine).

CMT is a disorder of genetic heterogeneity, in which mutations in different

genes can produce the same clinical symptoms. In CMT, there are not only

different genes but different patterns of inheritance. The most common type,

CMT1A, is inherited in an autosomal dominant pattern. This means that if one

parent has CMT there is a 50 percent chance of passing the disease on to each

child. Other types are autosomal recessive or sex-linked CMT. Each type is

characterized by symptoms ranging from severe weakness and wasting of leg and

hand muscles to very mild symptoms or no symptoms at all. Full expression of

CMT's clinical symptoms generally occurs by age 30. The more severe symptoms

are related to an earlier age of onset.

http://www.lvhealth.com/lv/mental/encyc/charcott.htm

[Guest guest]

In a message dated 4/14/00 10:54:06 AM, gingerale1996@... writes:

<< Can someone tell me what tests they give children? >>

" Diagnosis is usually made through a physical examination which includes

tests of muscle function and sensory responses, supplemented by an

electro-myelogram. EMG "

Knowing family history helps a lot.

Some of the symptoms I hear about include toe walking, poor balance,

weakness, awkward running, complaints of painful legs or feet, very high

arches, (or very low ones in an older child), and things like that. I'm sure

the moms will give you many more ideas.

Kat in Seattle

[Guest guest]

------Original Message------

From: jege6666@...

egroups

Sent: April 14, 2000 5:22:26 PM GMT

Subject: Re: [] I'm new here

In a message dated 4/14/00 10:32:52 AM Eastern Daylight Time,

gingerale1996@... writes:

> My mother has CMT and I'm going to be tested this May. I

> decided to be tested after I had my second child.

Once you have been tested will you then test the children? My thought was

to give the children the blood test first, then if cmt shows up (cmt1, etc.)

you and your mother would know what you have also without taking the tests.

That how I found out what type cmt I have, my granddaughter was tested.

>Can all types of CMT be detected by a blood test? The reason I'm being

tested is I don't know for certain that I have CMT. I suspect that I

possibly do. There's a 50/50 chance, right? Actually, my children's

pediatrician has been helping me through the process. My daughter is the

reason I decided I should find out. I've been so concerned about her. If it

turns out I do have CMT I'll have her tested. The doctor has said she has

low muscle tone. She seems to fall alot too. I wasn't sure if all the

testing they would do would be just a blood test on her. I do have the name

of a neurologist at Children's Hospital. I've just been holding off until I

really know more. Can someone tell me what tests they give children?

What signs did you notice? I'd really like to compare notes.

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[Guest guest]

In a message dated 4/14/00 10:54:00 AM Pacific Daylight Time,

gingerale1996@... writes:

<< >Can all types of CMT be detected by a blood test? The reason I'm being

tested is I don't know for certain that I have CMT. I suspect that I

possibly do. There's a 50/50 chance, right? >>

***************

April,

No not all types of CMT can be tested for.

My dad who has CMT recently had the DNA testing for the different CMT types

that can be tested for. They all came back that he did not have those types

of CMT. I also have CMT and we have always thought we had CMT1A and was very

surprised by this news that we don't.... We don't question that we have CMT.

WE DO.. But we still don't know which one. It has taken me years to even

start to understand about the hereditary factors. It is my understanding

that if you test for these CMT types and do have one of them, then you have a

50-50 chance of passing it on to your children. Now you can have your

children tested and if thier test comes back that they don't have the same

CMT as you then they are not a carrier and cannot pass it on to thier

children. I hope this makes since to you.

I do have a video tape of Dr. Bird from the state of Washington that explains

this and much more..... If you would like a copy I could send you one..... I

would have to request however that you cover the postage and cost of the VCR

tape.....

Jeanie (from Oregon)

Moonglow21@...

Jeanie421@...

come and visit <A

HREF= " Charcot-Marie-Toothonlinechat " >CMT chat

room</A>

Charcot-Marie-Toothonlinechat

[Guest guest]

HI EVERYONE MY NAME IS STEPHANIE MY DAD HAS CMT2 THIS IS OUR FIRST TIME

WRITING WE HAVE BEEN WITH THE GROUP FOR ABOUT 2 MONTHS AND I HAVE JUST BEEN

READING ALL WHAT EVERYONE HAS WROTE ABOUT THIS ILLNESS. MY DAD HAS HAD 2

BROTHERS AND 1 SISTER PASS ON BECAUSE OF THIS SICKNESS, TODAY HE IS IN A

COMA. I WANTED TO KNOW WHERE I COULD GET A COPY OF THE VIDEO TAPE. I HAVE A

COUSIN WITH THE DISEASE ALSO, AND I THINK MY 2 SISTERS AND I ARE THE

CARRIERS I'M WORRIED BECAUSE I HAVE 4 SONS AND MY YOUNGER SISTER HAS 1 GIRL

AND 1 BOY, I'M GLAD MY OLDER SISTER DON'T HAVE ANY CHILDREN .SORRY FOR JUS

RATTALING ON LIKE I DID I, BUT I HAVE NEVER DONE ANYTHING LIKE THIS

BEFORE.SO CAN SOMEONE PLEASE TELL ME WHERE OR HOW I CAN GET A COPY OF THIS

VIDEO.

THANK YOU STEPHANIE FROM HAWAII

PARADYZE00@...

[Guest guest]

So I got my silicone test back today and it was negative. I had a 3rd

epstein barr test and the numbers keep going up. My alkaline

phosphatase is low and has been for 3 months. Its at 20 and the range

is between 40-120. I talked to 2 doctors and that said that it is

okay it could be malnutrition problem. Any body know any thing on

this. I don't understand why my epstein barr is still high I have

been feeling better. Is it my implants thats doing it. Anyone here in

Las Vegas know a really good regular medical doctor. I go to see

Zamboni on Monday. I don't know what other PS to see. Im starting to

get really upset because its hard to understand what is wrong with

your body.

Caren

[Guest guest]

Dear Patty,

Hello! How are you? The RF test is for the Rheumatoid factor. An RF positive means you have rheumatoid arthritis. *Usually* (but not always) your symptoms are symmetrical (both hands, knees, ankles, etc.) Almost all of the other types of arthritis are rheumtoid negative -- Reactive arthritis, lupus, fibro, osteo. If is possible,though, to have RA and one of the RF negative types.

ESR is the sedimentation rate (I'm not sure what the "e" stands for). I was told that the ESR shows the rate of an infection. The normal rate is 15-20. When mine was 1st tested it was over 100. A high number doesn't say what is wrong, just that something foreign is in your body. When I was 1st sick, the doctors told me that my high ESR was the only thing that prevented them from telling me I was crazy (not that comforting).

I hope that helps.

(Reactive Arthritis)~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

“The strongest oak of the forest is not the one that is protected from the storm and hidden from the sun. It's the one that stands in the open where it is compelled to struggle for existence against the winds and rains and the scorching sun.” (Napoleon Hill)

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

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[Guest guest]

the RF test is to test for rheumatoid factor which is

basically that you have positive rheumatoid arthritis.

but you don;t have to have this factor to have RA. The

ESR test measures the sediment level in your bloods.

My understanding is that the higher the sediment level

the higher amount of pain you are in. it is one of the

standards test done with your bloodwork for RA and

when you test negative for the RF it is another

indication that the rheumatalogist can take into

account.

As for the ANA test, I haven't heard of this one.

hope this helps

Kate

-----Original Message-----

From: justliloleme51 <patsywilliams@...>

[mailto:patsywilliams@...]

Sent: 11 January 2003 09:43

Rheumatoid Arthritis

Subject: tests

Can someone please tell me what is the difference

between a RF test

and an ESR test.

also, what does it mean when an ANA test is negative

and a RF test is

positive.

thanks for your help.

patty

http://movies..au - Movies

- What's on at your local cinema?

[Guest guest]

Thank you stephanie for getting back to me..When i had my test done a

few years ago it said the ANA was negative and The RF was 20. Do i

need another test to see if that number is higher as I'm in much

worse condition now..when the test was taken, i wasn't swollen

anywhere except for my fingers..now my ankles, knees, elbows and

wrists are swollen and my jaw hurts when i open my mouth after it's

been closed for awhile, like especially in the mornings..My tail bone

is swollen and it's really painful..yesterday the doc gave me

naproxen and it's helping my back but i don't notice any relief in my

feet yet..

I have another question...

does plaquenil (200mg)x 2 a day) make you gain weight, because i've

started taking it and i feel like i'm bloated. and i'm noticing

little white lumps in my blood vessels on my wrists..is this from

plaquenel or just the ra progressing. I showed them to the doc and

he said it's from fibromyalgia..?? I never heard of this before.

thanks again,

patty

>

[Guest guest]

thanks kate..

i think the ANA is to test for Lupus..there was nothing on my report

to do with an ESR test..just results from ANA and RF..

patty

> the RF test is to test for rheumatoid factor which is

> basically that you have positive rheumatoid arthritis.

> but you don;t have to have this factor to have RA. The

> ESR test measures the sediment level in your bloods.

> My understanding is that the higher the sediment level

> the higher amount of pain you are in. it is one of the

> standards test done with your bloodwork for RA and

> when you test negative for the RF it is another

> indication that the rheumatalogist can take into

> account.

>

> As for the ANA test, I haven't heard of this one.

>

> hope this helps

> Kate

> -----Original Message-----

> From: justliloleme51 <patsywilliams@s...>

> [mailto:patsywilliams@s...]

> Sent: 11 January 2003 09:43

> Rheumatoid Arthritis

> Subject: tests

>

>

> Can someone please tell me what is the difference

> between a RF test

> and an ESR test.

>

>

> also, what does it mean when an ANA test is negative

> and a RF test is

> positive.

>

> thanks for your help.

>

> patty

>

>

>

> http://movies..au - Movies

> - What's on at your local cinema?

[Guest guest]

Hi Patty,

Sorry it took a little while to respond. Work has been very busy! Anyway, I would suggest the RF test be done again. Currently, I am RF negative but my rheumy re-tests it once a year to see if it has changed. I think the ANA test might be lupus or some other form of arthritis. You may also have your ESR tested again. My rheumy tests my ESR every time I get blood drawn (every 3 months) but not every rheumy does. An elevated ESR may also be from your increased symptoms. Unfortunately, arthritis is known for progressing rather quickly in the first few years.

You may also have rheumatoid nodules from the white bumps you described. I have them on my jaw, fingers, wrist, shoulder and elbow. I have similar pain in my jaw, especially after I have been sleeping. Nodules are typically slightly raised and warm to the touch.

If haven't taken plaquenil so I don't know if it causes weight gain. I know Prednisone does. Also, the inflammation in all the joints you described may be the cause of the weight gain. Check out www.arthritis.org. They have a pretty comprehensive med list with side effects.

Hope that helps.

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

“The strongest oak of the forest is not the one that is protected from the storm and hidden from the sun. It's the one that stands in the open where it is compelled to struggle for existence against the winds and rains and the scorching sun.” (Napoleon Hill)

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

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