Cerebellar ataixa

Hi Everyone,

Not been on here for a while but had lots to do. I finally have my appointment next Wednesday down in Sheffield, very nervous don’t have a clue what to expect or what they will be doing plus my consultant in Leeds has asked me if the dr down there can do genetic testing. Could someone tell me how that’s done, please I would be grateful.

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:slightly_smiling_face: It’s likely that the Neurologist at Sheffield will start from scratch, and ask you to recall your exact history of symptoms, when they started etc and if you have any known family history. It’s from this information that they decide which specific tests to do. These will be blood tests, any muscle testing they think appropriate, and may also involve an MRI. You may be referred to a NeuroPhysiotherapist.

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Well, my consultant from Leeds has told me to tell Dr. Hadjivassiliou everything that’s going on even the burning sensation that I get in my head and leg. Would they want to do the tests while am there? what do you think

:thinking: When I had an appointment in London ( previous MRI at Newcastle), the Neurologist appt, neurophysio appt and muscle testing appt, were all separately prearranged in writing for the same day. This was prior to Lockdown…
Since Lockdown there haven’t been many face to face appointments, all my reviews have been by telephone. If you haven’t received anything in writing confirming anything other than seeing the Neurologist, it’s fair to assume that would be the only appointment. Although it’s likely the Neurologist would take blood to test.
You could always ring and ask the appointment line number to ask if that was definitely the only appointment you have.

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Nothing to add to @Beryl_Park, @Footymad1, except to wish you well and I look forward to hearing how you get on. Stay safe and dont forget to smile xx

I’m here in the US so I’m not sure how testing goes in the UK. When I began to show symptoms back in late 2016 I underwent a variety of tests; inner ear, MRI cancer screening, nerve testing in my legs, etc. The doctors labeled it ataxia. But that didn’t explain it all. I finally got hooked up with a specialist in May 2018 who looked at my MRI and within 10 minutes diagnosed my condition; Multiple Systems Atrophy; MSA for short. It is in the Parkinson’s family. I have that with cerebellar ataxia, MSA-C. I am 65 now. The diagnosis at that time was it’s incurable and life expectancy goes like this; 2 years with a cane, 2 years with a walker, 2 years in a wheelchair, then you die. A real rosy outcome. I fight it everyday.

I use a cane as a prop mostly because I don’t want to appear that I’ve been into the stout all day. It really doesn’t help that much to be honest. I stumble quite a bit and shuffle, and fall occasionally. I have trouble speaking and fine motor skills are affected as well as some cognitive abilities. It’s a bitch sometimes since I was a very active person and now can barely walk but in the end I’ve had a good life, and a great supportive wife. And that keeps me going.

All that to say shat ever you have to go through to get the tests do it. 95% of dealing with it is knowing what you have Good Luck and keep your chin up.


Well they did tests and that and they did genetic testing and white cell enzymes all I be waiting for now is the results and see whats what


-I have had the genetic testing done twice. It is a blood test. First time was over 15 years ago and the next time was about 6 years ago. Interesting because as more is found out about Ataxia the gene testing results did change.

My DNA is kept for testing against future findings of Episodic Ataxia. I suspect this is because I have a link with a mutant gene, Syne1.

Hi all

I was wondering if someone cold tell me if there are something wrong with blood results would they get you to come in earlier and how long before they are normally back it will be 3 weeks on Wednesday. Thank you

:thinking: It can depend on the type of testing involved, and whether there is a waiting list for testing, Covid could also be adding to the delay. You could always ring Prof Hadjivassilou’s Secretary to ask if the results were back,

Hi Everyone

I got another letter through the post about booking an MRI Head and MRI Hean with spectroscopy which will be done at Sheffield and that’s going to be 27th march

:slightly_smiling_face: Good news, not long to wait.

Hope the scans went well - my mum is wheechair bound so when she went to Sheffield they kept her there for a week having every scan possible (we are based in Lincoln) - she even had a bone marrow biopsy. They have kept her bloods on ice as they are waiting for new equipment from America which they hope can determine an even more detailed diagnosis.

They canceled my scans so got to wait till the 29th of April which am not too fussed about plus I haven’t had any of my test results back yet either

:thinking: It’s likely that Covid has a part to play in delays, but since we’re about to come out of lockdown hopefully things will improve. :slightly_smiling_face:

As I said am not to worried and when he sent me the letter he did tell me that when he had the results he would let me have them when he sends me another letter out to see what’s what but they did take a lot of blood :drop_of_blood:

:grimacing: I’m not happy with needles at any time…let’s hope you get some useful information from all of this :+1:

Thank you I will keep you all updated

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I had my scan last Thursday so waiting for all of my results including the genetic tests

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