Hi. I met a nurse today (at a clinic for another health issue) who was quite excited to meet someone with sca2, as her father-in-law has CA and she’d never met anyone else with a related disorder before. I gave her lots of suggestions for online sites…including this one, of course😜…but I was wondering if anyone could explain the difference to me, as his is also genetic. Is it just a difference in labelling, or an sca whose number hasn’t been diagnosed, or a different variation??
V🤔 Generally speaking, Cerebellar Ataxia is not genetic, it isn’t a variation of SCA and isn’t inherited. Spinocerebellar Ataxia is genetic, sometimes easily identified by blood test against already recognised types, of which there are many…possibly nigh on 100 but not all are yet at the stage where patient testing is possible.
It often takes an expert Neurologist to differentiate between the two, and decide whether or not to go down the route of testing. Symptoms can be uncannily similar.
New mutations of existing types of SCA are being found, which makes the journey to find an exact type type even more drawn out and frustrating. And, it is possible that some people previously diagnosed with Cerebellar Ataxia, find the diagnosis changes as research moves on.
She said that his WAS genetic, as his father had had it, which was partly what confused me. But I suppose ultimately it’s just a name and there are so many variations with minimal differences between them, that it doesn’t make that much difference. My SCA2 was actually diagnosed pre-symptomatically from a genetic blood test because my birth mother was diagnosed with it, and her mother had had it too, but that was before genetic testing.
If he’d actually tested positive for SCA2, then it is genetic. Sometimes people don’t always say Spinocerebellar Ataxia…just Cerebellar Ataxia, even when they’ve previously referred to a specific SCA.
You’re right… I think that a lot of people don’t realize there’s more than one type, and just use the terms interchangeably, not realizing it may be important to differentiate down the road. I had a doctor do that to me many years ago (over 35:grimacing:)—crohns or colitis, doesn’t matter, same thing. But there is so much better information nowadays, I guess.
Beryl is right. Sc she could have easily misheard. sca2 is genetic, I have it 43, my bro 46 has it, but milder than me.passed down by paternal line, my father had a ‘funny’ gait, too wide. mms, walked like drunk, when sober and that was a rare occurrence:), my grandma had it, did 72 years of age, not bad…they both unfortunately became alcoholics, couldn’t cope with it ALL.I am t-total, cannot have much drunk from half a wine glass, gone for 8% wine, not 14% as normal…