Tests to confirm Cerebellar Ataxia

[kj555]

Hi,

What are the tests for cerebellar ataxia including possible blood tests.My fathers neuro doesnt take much interest.He hasnt ordered a single test

Thnks

[sylviagreenhalgh]

basically the diagnosis seems to rely on the expertise of the doc. I was referred to 3 specialists - haematology,rheumatology and neurology. I got nowhere with the rheumatology- a new consultant who said there was nothing they could do, the blood doctor told me I had myeloma and would need chemo and steroids and then he changed his mind and I had a blood condition called MGUS which could lead to myeloma or lymphoma, so I asked to be referred for a second opinion from a very experienced rheumatologist and he said it was neurological so I saw the neuro and he confirmed ataxia. they did scans of brain and spine but the main diagnosis is from looking how I walk , no feeling from waist down, so incontinences is the next thing. I was told that ataxia is a rare disease and many docs know nothing about it. from walking 10 mils a day I can no longer walk much round the house and I have been given a NHS wheelchair which is powered and I can use indoors and out and am still waiting after 5 months for the council to build a ramp so that I can get out of the house. I live alone as my partner of 21 years left me as I was too disabled. a positive mental attitude is th most important thing- I am still the same person as I was 8 years ago when all this started- I had flu which seemed to affect the brain - I have counselling when I need it. I use the internet for everything shopping etc. I claimed attendance allowance which helps financially. I use cabs to go places but I think I may have to give up driving - as you know you have to declare ataxia to the DVLA an they took nearly a year to give me my licence . I just enjoy life as much as I can so I take evry day as it comes . hope this helps Sylviaxx

[neta in reply to sylviagreenhalgh]

Wow! U R a hero! N

[Rubinas85 in reply to sylviagreenhalgh]

Hi

This is really interesting Sylvia. My mum went through what you did too. She was diagnosed with myeloma and then they said she has MGUS. So now they just make her have regular blood tests to monitor the protein in her blood so it doesn’t get too high and lead to myeloma.

After this she was diagnosed with cerebellar ataxia. Are there different types? She’s had balance issues since she had an ear infection.

[sylviagreenhalgh in reply to Rubinas85]

in the last 2 years things have changed. I had a lumbar puncture and after they drained some CSF I could walk ! so they then diagnosed normal pressure hydrocephalus and I had a shunt put in my brain to drain the CSF and since then I AM MUCH MORE MOBILE. I VISITED FRIENDS IN iTALY AND Germany I NEVER THOUGHT I WOULD SEE again. I had to wait 8 months post op before I could drive again but I do drive again. still being tested for myeloma every 6 months so why not ask the neurologist you see if you may have another condition. everyone I have met with NPH said it took years for them to be diagnosed . I lost 5 years pf my life . apparently people with NPH are often told they have dementia or parkinsons. the best charity that helped me is SHINE which supports people with NPH or Spina bifida. the brain and spine charity were also helpful. good luck Sylviaxx

[february]

Dear j555, When I was diagnosed with Sporadic Cerebellar Ataxia (unknown cause, symptoms 24/7) twelve years ago, I had an MRI of my brain (which showed atrophy of my cerebellum), several different blood tests (?), a nerve/muscle test (EMG ???) and several visual tests. I also had a sleep study, as I was diagnosed with sleep apnea (I now use a C-Pap machine when I sleep), which is common in some people that have ataxia. Hope this is helpful..., ;o)

[HarryB Administrator]

Hi kj555

Thank you for your post.

Like with all medical disorders, after taking a thorough history and performing a thorough examination, the doctor comes up with a list of possible diagnoses. He/she can then request certain investigations to confirm/rule out those diagnoses. In the case of cerebellar ataxia (CA) investigations might include a CT scan of the head, an MRI scan, a lumbar puncture which involves taking a small amount and examining spinal fluid from the spinal column or a blood test to look for certain deficiencies that are known to cause CA e.g. vitamin E, Vit Co Q10. This list is not exhaustive. Further blood tests can be taken to examine the DNA to find a cause of the CA. There are 100 different genes known to cause CA and there are still about 50% of people with CA who do not know what their cause is (myself included). As you can see diagnosing cerebellar ataxia is a complicated and often lengthy process.

I am sorry you don't sound too happy with your father's neurologist. You might want to think about and ask either the GP or the neurologist to be referred to an ataxia centre to see a neurologist who specialises in ataxia. Details of these can be found on the Ataxia UK website ataxia.org.uk by following this link ataxia.org.uk/health-and-tr... or alternatively call the helpline on 0845 644 0606.

Best wishes

Harriet

[Iain_100]

Hi kj555,

MRI scan of brain and spine, lumbar puncture - and more blood tests than I care to remember. All were negative.

The only test that showed a positive though was the electrical test done by a neurophysiologist. Electrical signals between the extremities (legs in my case) and the brain are measured. At one point, the neuro jabbed a needle in my shoulder just to check that her monitor was working (as the results were so bad).

In hindsight, if I could opt for just one test, it would have been this one. It doesn't solve anything, but just knowing *something* is "not quite right" answers some questions at least.

Sylvia: I love how you ended your comment! Sometimes, it's all we can do. And should do. We'll never be as healthy as we are today. So do what you still can. With a smile.

Iain