Re: doctors appt brings about puzzling experience!

[Guest guest]

Jackie,

Wow, what a shock about the " puzzling diagnosis " ! First, let me say I'm really

pleased it was a positive experience and the doctor was kind and had respect for

YOU. Yes, by all means, stay here with us at , of course.

What I know about SMA is pretty slim but first, there has been research evidence

shown that SMA and CMT2D are found on the same chromosome 7p15. CMT2D and distal

spinal muscular atrophy type V (dSMA-V) are both axonal peripheral neuropathies

inherited in an autosomal dominant manner. That's it for my knowledge!

Here is a link to the MDA SMA info

http://www.mdausa.org/publications/fa-sma-qa.html I'm sure your local MDA can

give you more of an updated version.

As for groups like : didn't find any in a quick search, but some links are

http://www.smasupport.com/ and http://www.fsma.org/ I was using dogpile.com as

my primary search, there's some other info there if you just search for SMA, but

it seemed so much applied to pediatric SMA.

It is such a bummer you have to go through blood testing. I can't recall if you

had the CMT test and what the results were. Keep us updated and let me know if I

can help more. There are 2 abstracts I found, but heavy on the 'medical speak',

both mention SMA and CMT 2D like I said above.

Gretchen

Went to a new doctor today at University of land neurolology

department. Quite a different experience from Hopkins. First of all,

it was similar to a regular doctors waiting room, did not have to

wait long, doctor came out to greet me and spent a very long time

with me talking, answering questions....He was so kind and treated me

like an intelligent person!

The shocker that i had was that he does not believe i have CMT. Now

for 20 years i have been told i have CMT, so you can imagine my shock

and surprise. He believes i have SMA-spinal muscular atrophy,

although he has not ruled out CMT. The reasons why he thinks this is

i have such muscular weakness and not as much sensory problems. He

said my hip-girdle is extremely atrophied and that is what is making

my walking so difficult. Now i have to go and have blood work taken

to look for the known genetic factors of SMA. Feel like i am back to

the beginning again. Since i have no family history, my diagnosis is

extremely difficult for them to get a handle on. If i do have CMT, it

is one of the rarer forms of it.

I guess i will have to get busy again doing research!

Gretchen, if you know anything specific about SMA, please let me know

or if there is a group similar to this

Regardless of the diagnosis, i still hope to remain an active

participant of this group, because we are all under the same umbrella

of MDA anyway!

Thanks for listening

Perplexed in land

Jackie

How do you exercise your best muscle - the brain?

Our current poll wants to know!

/polls

[Guest guest]

I did have the CMT bloodwork done 2 years ago and it showed as " negative " My

doctor's explanation was that I just did not test positive for any of the known

antigens for CMT. There is 1 strain of SMA that does seem to cross with CMT, but

I think I will wait on doing heavy research until I know something further. Most

of the info I have read is also about pediatrics.

If I do have CMT it is of the axonal type.

Thanks for the information and I will keep you informed on where this goes!

Jackie

[Guest guest]

Jackie,

I am shocked. I have CMT 19 years and last week I was in the hospital and the

new neurology Dr. said SMA, I am also don’t know what to say what to do, be

please with me in contact. Does any one can tell more. Thanks all the forum and

Gretchen.

Nachman (44 years old)