Fredrick's ataxia and CMT

[Guest guest]

My husband has CMT as does his sister, uncle, aunt, and great uncle

and possibly a great aunt. His grandmother (so the mother of the

uncle and aunt and sister to the great uncle and aunt) has been

diagnosed with Fredrick's ataxia. She has very thin ankles like my

husband, but she is REALLY shaky - which I guess is the ataxia. My

question to all of you wonderful experts in this area is...How do

these two diseases go together. Could the grandmother's FA be the

same gene that passed as CMT? Thank you so much for your explanation.

[Guest guest]

Hi ,

Well, one of my 'other diagnoses' in my teens when Drs. changed their

mind about my CMT, was Fredrick's Ataxia. I was also in a program and

study for that. FA is a completely different peripheral nerve disorder

than CMT, but also hereditary. What the 'ataxia' means simply is

problems with balance and coordination, which I had alot of as a teen.

Shakiness? Do you mean 'tremors' or the shaking like in Parkinson's?

Some of us with CMT have that too. The FA gene is found on a different

chromosome than CMT 1 and 2, BUT now since I understand reseachers have

seen genes 'jumping chromosomes' who knows what can happen? I am not a

geneticist, just trying to share my experience and also the research as

I read it.

Now, I suppose it would be genetically possible to have both diseases in

one family, I am thinking that maybe a misdiagnosis came about, since

your husband's family shows a clear genetic lineage. How was his

grandmother diagnosed? EMG? DNA?

Here's a couple of links for you:

http://www.ninds.nih.gov/health_and_medical/pubs/friedreich_ataxia.htm

http://www.ataxia.org/

Also you might ask a certified genetic counselor about this. Or maybe

the people at the DNA genetics test lab http://www.athenadiagnostics.com

Hope this helps a bit.

~ Gretchen

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