Friedreich's ataxia or CMT

[Guest guest]

Ricky

There are many sub-types of CMT now, and even the majority of CMT Type

2's have no DNA test. Here's a link to the complete CMT evaluation DNA

test

http://www.athenadiagnostics.com/site/product_search/test_description_template.a\

sp?id=231

As for the 'types' - at my last count there were about 79; new subtypes

and mutations are still being found. Take a look at this

http://www.neuro.wustl.edu/neuromuscular/time/hmsn.html

Some of the research I have read is now suggesting Type 3 is really Type

1. Go figure!

I can relate to the Frederick's Ataxia. Originally, I was first

diagnosed with CMT as a child in 1962. With each subsequent medical

appointment, each doctor thought I might have something else - so tests

being slim at that time, and invasive, I had muscle/nerve biopsies and

EMG/NCV and spinal test and some wires on my head lol. I tested negative

for everything. One doctor insisted I had FA. Just by observing his

waiting room of FA patients, I could tell I did not have it.

I have not had the CMT DNA test - it is relatively new and I am

relatively old, (lol) and it is not necessary for me to know which kind

I have, when a 1999 EMG/NCV showed everything was normal with

reinnervation, suggested a neuronal form of CMT. (Type 2) My legs have

muscles, they have always had, my main problem is my feet - had one

surgery right after the original diagnosis.

I went to an MDA clinic once, suggested by my private neurologist, since

he was at a lost over what to give me for tremors. I waited 3 hours past

my appointment time and then techs started measuring my legs for AFOs,

which I did not need. I was aghast no one listened to my doctor's

questions or read his report to them and also that it was assumed I

needed AFOs. I didn't then and I still don't. That was 27 years ago.

Another private neurologist I went to gave me the best help for my

tremors.

In the November 2002 Journal of Neurology 2002 there is an article about

Friedreich's ataxia mimicking hereditary motor and sensory neuropathy

(aka CMT) by Panas M, Kalfakis N, Karadima G, Davaki P, Vassilopoulos D.

at the Department of Neurology, Athens National University, Eginition

Hospital, 74 Vas. Sophias Av., 11528, Athens, Greece.

" Four patients from three unrelated families, with clinical and

electrophysiological findings compatible with the diagnosis of

hereditary motor and sensory neuropathy, are presented. The molecular

analysis showed that the affected individuals were homozygous for the

mutation in the X25 gene, characteristic of Friedreich's ataxia. These

patients seem to represent a form of Friedreich's ataxia mimicking

Charcot-Marie-Tooth disease. "

I hope this information is helpful. You are welcome to post here

anytime.

~ Gretchen