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Maybe????

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Hello. I am really in a quandry as to how to even present my questions. I'm a physical therapist, and am currently RECEIVING physical therapy. She is actually the person who suggested that I visit this site. I was initially diagnosed with Gluten Ataxia, given that my antigliadin antibodies were "first high, then outrageously high" as described my neurologist. I have been diagnosed with an Arnold Chiari Malformation, but the cerebellar tonsilar descent has been only 5-7mm. After pressing for SCA genetic testing, the report came back, "unknown gene variant on Aprataxin and/or Senataxin genes". Apparently, this is on one chromosome only.

My neurologist has suggested that research has indicated that chromosomes aren't 50/50 donations as once thought . . . that some chromosomes are "dominant", say 80/20 and you present with genetic marker, or defect, whichever it may be.

I have been diagnosed with severe ataxia, am currently in a wheelchair for long distances, but have been told that I should be in my chair ALL the time (but sometimes the logistics just arent' conducive to staying in the chair!) I also have occulomotor apraxia/ataxia, dysarthria, decreased swallowing motility in the cervical segments (on the left only), peripheral neuropathy, "autonomic dysfunction", pretty significant spasticity and word retrieval difficulty. Not too many things, given the circumstances, I suppose.

I guess my purpose in disclosing all this information is that I am VERY confused with regard to the chances that I have the truest form of ALS. If this is a Senataxin VARIANT, does that mean that I could present with many of signs and symptoms of ALS, but not have the fateful outcome that it inevitably has.

Has anyone on the forum encountered this before? My physicians are beginning to be stumped -- which is pretty amazing, because neither Mayo nor Hopkins took the time and/or initiative to complete genetic testing despite a rather graphic description of my grandfather's condition during his life, which strongly correlates with mine.

I am unsure of what steps to take next, who to contact, IF I need to contact anyone, or if my chances of having a rather "pure" form of ALS is even something I should worry about. Any help that anyone can give me would be really appreciated. At this point, I am confused, frustrated, scared . . . you name it.

Thank you for any help that you can give me.

Lynne
 

Al

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Hi Lynne, sorry there are no doctors or medical specialists to help here. I am up on a lot of the medical jargon associated with ALS but yours is way over my head. I'd have to be on the net for a couple of days just figuring out your post. If you've been to Hopkins and the Mayo and they can't figure out what you have it might just have to be a wait and see thing. Wait until things get worse and then get more tests. I can't see any reason for genetic testing. If you don't have a definite diagnosed of ALS then there is not much point in looking for the SOD 1 gene. Not sure if this helps but maybe someone else will have some ideas. AL.
 

Maybe????

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Joined
Sep 28, 2006
Messages
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PALS
State
Kentucky
City
Louisville
Thanks, Al. Actually, I DID have have an "unknown variant" of the SOD 1 gene. That's what is so confusing. Athena labs did my genetic testing. It was for spinocerebellar ataxia. That's how the SOD 1 gene variant came up. My genetic testing was done by my neurologist here . . . he said it might be worthwhile to see if, because my grandfather had such similar symptoms, to see exactly what's going on with regard to my genetic makeup. Hopkins and Mayo didn't do the genetic testing, haven't seen it, so I don't know if they would have a better read on it. I realize that this is a forum consisting of patients . . . I am on the Celiac forum because of the stupid gluten intolerance, and it consists of patients, as well. We all sort of help each other out with information we have. Actually, THAT'S why I had the genetic testing . . . I have been so RIGID with regard to my diet, absolutely NO gluten intake, which destroys the Perkinje cells in my cerebellum and retinas, but I was getting continually worse. I used to have an absent plantar reflex -- now it has started into a Babinski. The longer this goes on, the more ALS symptoms I have -- and it's pretty frightening. Didn't know if anyone would know of a geneticist who could help me figure all of this out. Even having the VARIANT of the SOD 1 gene scares me . . . from the report from the laboratory, they didn't attempt to further explore WHAT variant it is . . .

Thank you for the response. I really appreciate it. Wishing you good things, Lynne
 
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