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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.
 

olly

Extremely helpful member
Joined
Jan 10, 2008
Messages
2,732
Reason
PALS
Diagnosis
11/2007
Country
uk
State
uk
City
uk
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.
 

etchick

Member
Joined
Mar 5, 2009
Messages
11
Reason
PALS
Diagnosis
01/2002
Country
US
State
TN
City
Seymour
Thank you. I'm checking into getting this test done.
Alisa
 

Remixen

New member
Joined
Aug 21, 2010
Messages
2
Reason
Friend was DX
Diagnosis
02/1985
Country
NY
State
USA
City
NY
Thanks for you information i newly join and so nice post I agree with your sharing link and also provide complement is so informative ....
 

Remixen

New member
Joined
Aug 21, 2010
Messages
2
Reason
Friend was DX
Diagnosis
02/1985
Country
NY
State
USA
City
NY
Thanks for you information i newly join and so nice post I agree with you. Your complement is so informative ....
 

Tokahfang

Moderator emeritus
Joined
Jan 31, 2010
Messages
773
Diagnosis
07/2009
Country
US
State
VA
City
Richmond
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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