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Here is the email I recieved from MDA. I

thought I might share it with you all.

Love,

Susie

Reply-to: " Bill " <bmoore@...>

From: " Bill " <bmoore@...>

To:slemin46@...

Subject:Fw: CMT Inheritance

Date:Fri, 18 Jan 2002 14:04:11 -0700

Organization:MDA

Dear Susie Lemin,

Sad to say but your suspicions are probably correct.

Your father's sisters comments would apply to

disorders that are

inherited

as sex-linked recessive disorders where females may

carry the disease

but

may never actually show it while men in the family

will show the

disorder in

full expression

CMT does have different kinds of inheritance including

one that is

sex-linked. But by far, CMT is a disorder that is

autosomal dominant

in

it's inheritance. This means that both men and women

can inherite this

form

at equal risk. It also means that of two copies for

the gene affected,

only

one needs to be mutated or disease causing for the

disease to show. In

an

recessive disorder, both copies of the gene in

question have to be

mutated

for the disease to show.

As I said the most common form of CMT is autosomal

dominant and yes it

is

quite likely that if your son has the disease, you may

very well have

it as

well. As far as disease progression, it is highly

variable between

members

of the same family. As you describe, it is not out of

the range of

possiblity that your form simply is only beginning to

give you problems

while your son was affected earlier and more severely.

Genetic tests are now available to determine the exact

form of CMT that

is

present in your family. There are different genes

that can cause

different

forms of CMT and within each of these genes there are

different kinds

of

mistakes or mutations that can dictate severity of the

form.

There are a few rare cases of autosomal recessive

forms of CMT but by

far,

the autosomal dominant form is what is seen most.

this is probably the

case

in your family.

Please visit our web site and search under genetics

which will take you

to

pages to help you understand the different forms.

Also search under

CMT and

you will find the different forms discussed in greater

detail than I

have

here.

I hope this information is helpful to you.

Sincerely,

Bill

Research Program Coordinator

Muscular Dystrophy Association

33OO E. Sunrise Dr.

Tucson, AZ 85718

Ph: 520-529-2000 Ext. 6476

Fax: 520-529-5454

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

> From: " Experts " <experts@...>

> <slemin46@...>

> Cc: <rjs@...>

> Sent: Friday, January 18, 2002 12:02 PM

> Subject: CMT Inheritance

>

>

> > Thanks for taking the time to write MDA.

> >

> > I've forwarded your e-mail to our Research

Department

> > (research@...) for response.

> >

> > Sincerely,

> >

> > Tom Bush

> > Director of Online Services

> > & MDAchat Administrator

> > MDA National Headquarters

> > Email: tbush@...

> > Fax: (520) 529-5383

> > Phone: (800) 572-1717

> >

> > ////////////////////////////////////////////////

> > MDAchat Calendar and login:

> > <http://www.mdausa.org/chat/calendar.html>

> > Neuromuscular Disease Guides:

> > <http://www.mdausa.org/disease/index.html>

> > Donate/help in other ways:

> > <http://www.mdausa.org/help/index.html>

> > Email comments/suggestions: mda@...

> >

> > ////////////////////////////////////////////////

> > Muscular Dystrophy Association

> > 3300 East Sunrise Drive

> > Tucson, AZ 85718

> >

> >

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

> > Sent: Tuesday, January 15, 2002 5:30 AM

> > Disease : ....... CMT

> > e-mail : ....... slemin46@...

> > Age: ....... 55

> > Sex: ....... female

> > ReceivingSvcs: ....... yes

> > LocalOfficeCity: ....... Ft.Worth/Dallas

> > LocalOfficeState: ....... TX

> > Name: ....... Susie Lemin

> > Address : ....... 911 Strongbox Lane

> > CityState: ....... North Ft. Myers, Florida

> > Country : .......

> > zip: ....... 33917

> > Question: ....... My father was diagnosed in 1961

for Fredrichs

> > Ataxia, I believe it was later changed to

Charcot-Marie-Tooth.

> > My son has been diagnosed with CMT1 about 1987.

He is 35 years

> > old now and severly disabled although not in a

wheelchair yet.

> > I am 55 now, I was always told by my father's

sister that I

> > couldn't have it because the men were affected and

the women were

> > the carriers. I am now showing many symptoms of

CMT. Weak,

> > numb, and tingling fingers and hands. My thumb

has " stripped a

> > gear " and is stiff now.

> >

> > I guess my question is, If my son has CMT1

wouldn't it stand to

> > reason that I also have it and it is just now

begining to show

> > progression? I must add that I had to have ankle

surgery in 1988

> > to tighten my ligaments/tendons to keep me from

falling so much.

> > I know now that this is also a symptom.

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