CMT parent diagnosis

[Guest guest]

I wouldn't always rely on the EMG. If your CMT is very mild I don't think the

EMG can pick it up.

[Guest guest]

Debbie,

About the mutation 'thing' - yes, it is possible. I had an EMG as a

teen (never knew the results) but prior to that at age 10, an

orthopedist diagnosed me with CMT by watching the way I walked - up and down his

halls. No DNA tests at that time (1960's)

In 1999, as an adult, I had another EMG - this time I learned the EMG

can distinguish between Type 1 and 2, and with my 'normal' readings and

reinnervation, the doctor put in his report that " this patient may possibly have

a neuronal (axonal) form of Charcot Marie Tooth " - which is Type 2.

Now, NO ONE, and I mean NO ONE, in my family has anything like I have, either

side of my parents lineage, my now deceased parents, even young cousins. NO

WHERE is CMT, except apparently with me.

So, for now either I am a spontaneous mutation, or CMT in me is

recessive - but that would still mean somewhere in the family in the

past it is there.

Something I have just been reading is research on chimpanzees and

gorillas with CMT. This was interesting, because, if what I read was

correctly interpreted by me, the author concluded the " CMT gene " has

beeen around for 6-7 million years and has followed the evolution of

the human on down through the ages. Just kind of blows me away.

I have not had the DNA genetic testing - I chose not to have children,

understanding the 50% inheritance factor and 1) I didn't want to pass CMT on and

2) I had doubts about my own CMT and my ability to care for an affected CMT

child who may or may not be affected differently that I am.

But, by all means, look into genetic testing for CMT - it isn't perfect yet,

there are many subtypes that there is still no test for, but as said,

something like 70% of CMT is Type 1. It is the Type 2 subtypes that there aren't

many tests for. Athenadiagnostics has two different tests available - if I was

to have the DNA testing NOW, I'd go for the entire CMT package evaluation that

hopefully could cover all types known, since there doesn't appear to be any

family history of CMT in my life.

Sorry to ramble on. I hope this is of some help.

~ Gretchen

[Guest guest]

Gretchen,

Thank you for your answer. It helps. However, I remain puzzled. How

can you be so sure that there is no one in your family who has

anything like you have, if sometimes the CMT symptoms are so subtle

that it is not detected until an offspring experiences/exhibits

difficulties that are more apparent?

In our case, it may be that the gene is 'there', but we are not dramatically

affected... Perhaps others of our sons are somewhat affected, which would

explain some of the difficulties two of them are experiencing with their lower

limbs.

This has not been explored because, according to the EMG, my husband

and I do not have CMT, so it has been suggested to us that CMT is not

what is affecting the other boys.

I realize that genetic testing may not reveal 'all'; and certainly not all of

the CMT types, but we have not had any testing, so we don't have any further

information at all, beyond the EMG. And, I am wondering, do we remain satisfied

with that? This sounds very confusing - I guess because I am still confused!

Debbie

[Guest guest]

Hi ,

I just replied to Gretchen, questioning that very same point. It seems perhaps

my husband and I should go for the genetic testing, even if it is just to

satisfy me! Likely, the doctors are correct - my husband and I do not have CMT,

and my son's is a 'one off'. But, I just feel I need more in the way of whatever

information is available, because of the difficulties experienced by others in

the family.

Debbie