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etchick

Member
Joined
Mar 5, 2009
Messages
11
Reason
PALS
Diagnosis
01/2002
Country
US
State
TN
City
Seymour
Hi! I'm new here let me give you a little history. I didn't have any one definitive test for PLS/HSP (hereiditary spastic paraplegia). The doctor's just ruled everything else out. Is this normal or is there a test? Also, my sister has something very similar to this. Although, none of the doctor's that she has been to have told her that she has PLS/HSP. I have tried to tell her that the disease does not manifest the same in everybody and that she probably has what I have. Also, she points out that noone in our family has been diagnosed with this disease. My answer to that is that a name for this disease (or recognition of it) has not been around very long and that most doctor's are unfamiliar with it. Would someone please comment.
 
hi etchick.
welcome to the forum.
hsp obviously is hereditory,only rarely is pls.
there is a blood test you can have to pathologically diagnosed it,occasionally it may not show up in tests as they can only test known mutant genes.
hsp/pls can be diagnosed'ed on clinical symptoms of umn dysfunction when all other causes are ruled out.
it sounds like it could be hereditory with you and your sister so maybe a hsp blood test could be the answer.
you are correct symptoms and severity can differ greatly between relatives.
i will post the info on blood tests.
 
Thank you. I'm checking into getting this test done.
Alisa
 
Thanks for you information i newly join and so nice post I agree with your sharing link and also provide complement is so informative ....
 
Thanks for you information i newly join and so nice post I agree with you. Your complement is so informative ....
 
Even the blood test is only 50%, they discover new genes every year that cause HSP and it takes years for it to get added to the screening. Make sure your insurance will cover the blood test, as only Athena Diagnostics does it, and it costs 16,000 dollars. You and your sister having signs of it and no family history sounds recessive... the recessives only test is 5,800 dollars, which made my insurance happier.

You are correct about presentational differences. Within one family line of HSP, grandma can get by with a cane all her life, mom can be in a wheelchair at age 20, and the grandkid can seem fully functional.

Welcome to the club!
 
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