Diagnosis or not

[Pussycat1]

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......

[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 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]

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

[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 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!