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
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