Diagnosis or not: Hi All Well seen consultant... - Ataxia UK

Ataxia UK

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Diagnosis or not

Pussycat1 profile image
5 Replies

Hi All

Well seen consultant today and tests for all known types of SCA are negative. So he says a label doesn 't matter, I have got SCA and there is no treatment, yes but it would be good for me to know a definitive reason. Redone blood tests today but nothing else to say or do other than see you in 1 year's time and keep up the exercise routine. Not sure how I feel at the moment......

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Pussycat1
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Veteran250 profile image
Veteran250

Pussycat...... Negative results have to be a good thing, we that do not have hereditary Ataxia in our family history will always wonder why me ??🤨🌹

Pussycat1 profile image
Pussycat1 in reply to Veteran250

I agree but I have 2 cousins with confirmed SCA 3 and most likely my Grandmother, Great aunt ( her sister) and my Uncle ( her son & father of cousins who have it). My mother was OK, Why am I Negative for SCA3?? confused and concerned for my daughters and grandchildren.

benning profile image
benning

I've been waiting 10 years for a diagnosis(ataxia type) LOL...

wobblybee profile image
wobblybee

🤔 Diagnosis of SCA3 will likely be based on the number of ‘repeats’. If you are diagnosed with Cerebellar Ataxia, it’s possible that you don’t have enough repeats to actually be diagnosed with SCA3. Although you basically have Cerebellar Ataxia..

ninotchka profile image
ninotchka in reply to wobblybee

True true. I don't have enough genetic "repeats" for any definitive type, yet have almost ALL symptoms for several types of Ataxia, including Friedrich's, so mine has been labelled "Idiopathic Late Onset Cerebellar Ataxia". Whew! It's just mysterious, is what it is. Just part of life's rich pageant!

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