Ataxia

[Nottscounty1862]

Hi.need some advise.just been diagnosed as aving type sca 17.my family as.went to a neurologist and he did some tests.walking ect.one of my brothers is got an appointment and hes got to av a blood test.can my neurogist know iv got it without a blood test. Thanks.

[wobblybee]

Hi🙂 SCA17 is one of the rarer Ataxias. A definite diagnosis of any Genetic/Hereditary form of Ataxia is usually only confirmed by a blood test.

A Neurologist will do this when, as in your case, the condition is already confirmed and another family member shows symptoms.

🙂xBeryl

[Nottscounty1862 in reply to wobblybee]

Tganks for replying.my dad as got a.nd my older brother.my neurolgist did all the tests.walking.reflexes.coordination vut said there was no need for blood test as my dad and brothers have got it.thanks.

[Hidden]

Hello you can get all the information you want on different types of Ataxia from the Ataxia Association and has all other members of your family been checked for Ataxia

[Nottscounty1862 in reply to Hidden]

Hello.yes my dad as got it and my brothers and my uncle.thanks.

[Pager]

I have SCA 17. I had to go through a number of genetic counselling sessions before they would do the blood test. Once the blood test was done the resaults seemed to come back really quickly. My neurologist wouldn't let me skip the counselling so all in all it took well over a year to get to the point of the blood test.

Also inherited from my Dad. My brother didn't want to be tested, but I already knew I had it... but neurologist wasn't convinced as the symptoms aren't too bad yet and I already had a diagnosis of Dyspraxia which has similar symptoms to early stages of Ataxia.

Good luck with what ever you decide to do.

Pager

[Nottscounty1862 in reply to Pager]

Hello.my neurolgist did the the tests but said there was no need to go for a blood test as he knew i had it.my other brother as been to a different hospital and he.s got to go for blood test.shall i go back to see my gp? Do you wobble and stumble as well.regards. steve.

[Pager in reply to Nottscounty1862]

Hi Steve,

I shuffle and walk into things a lot. My memory and cognitive function is starting slow/reduce. Which is the thing that causes me the most issues.

If your neurologist is certain you have it from their tests then I guess the blood test may be pointless. It's definitely worth a conversation with your GP though as I know my neurologist usually writes to my GP with their opinions on my condition/behavior.

I'm currently seeing a neurological psychologist who is helping me with some of the difficulties I have.

My Dad is also in a different NHS area so our treatment is very different. We now start going to each others neurology appointments as it helps them to understand how the condition is progressing in each of us.

Do you know how many repeats of the gene your family has? We are lucky ours is in the lower end so the symptoms are slower to progress. I am nearly 40 and am still working full time.

Pager

[Nottscounty1862 in reply to Pager]

Hello paige.my neurolgist must know by experience.i think its the lower.my dad is retired but me and my brothers work but im 47 and i only noticed when i got in my40s as i used to cycle and run a lot.its starting to get hard at work tho with heavy parcels as i cant keep my balance.its nice to talk too someone who as ataxia as you dont fine many with ataxia.steve

[Pager]

Us SCA17 people are a rare breed. There is a friendly Facebook group called spinocerabellar ataxia awareness and research support group if you would like to meet/chat with more people with Ataxia. Not many SCA17 people in it but everyone in the group has a connection with Ataxia in some way.

Pager

[Nottscounty1862 in reply to Pager]

That.ll be be good.i.ll have look.we sca 17 are a rare bunch.can i ask where abouts are you from.it tends to get worse when i get tired.after work.ect.