Do you think Cerebellar ataxia of unknown cause ... - Ataxia UK

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Do you think Cerebellar ataxia of unknown cause is a diagnosis?

HarryB
HarryBAdministrator

Morning all

I was told I had cerebellar ataxia nearly 30 years ago. Despite many tests over the years a cause has never been found.

My question...do you consider cerebellar ataxia of unknown cause to be a diagnosis or do you think a person who has been told they have cerebellar ataxia does not have a diagnosis until the cause is found?

Best wishes

Harriet

13 Replies

🤔 My first MRI showed a twisted blood vessel putting pressure on my Cerebellum, it’s possible that could have caused mild Atrophy. Later I had extensive testing after donating DNA for a project, and a tenuous link was found with Syne 1. And, I’ve had an MRI with contrast to confirm nothing else could be causing the problem.

Over the years my symptoms have shown to be consistent with those of an Episodic Ataxia ( I was initially diagnosed with Epilepsy), even though the exact diagnosis is still in question. I’m reasonably satisfied that the diagnosis is still Idiopathic, although the link with Syne 1 still niggles.

I was diagnosed with idiopathic cerebellar ataxia about 12 years ago.

I do not feel happy with my diagnosis because, when I have been to ataxia clinics and presented them with a list of my symptoms, I have always been told it is likely that I have something else going on.

I have the questionable diagnosis, which therefore makes it difficult to get any more investigations done.

At one point I went to a new GP, he looked at my symptoms and referred me to the chronic fatigue clinic. Frustratingly I now have that on my records as well.

In desperation, I went to see a private GP , presented him with my symptoms and he suggested B12 injections. These help but I know I cannot get these on the NHS. As a result, I am still having these privately.

I have mentioned it to my neurologist, he agrees they are helpful but cannot prescribe them.

I have accepted Idiopathic Cerebellar Ataxia as a diagnosis for form filling purposes as it seems to satisfy the 'tick box'. However, I dont accept it for my own peace of mind.

I was told it was 95% certain that I didnt have MS and at one stage I was treated for a year for Lupus. When I turned 70 [I am 78 in November] I told neurologist that I thought I had done my bit for data and statistics and didnt want any more testing. I have had DNA taken and that is kept for future reference. So, my answer is no, I dont accept that I have a diagnosis.

Best wishes, Patsy x

I was told I had 'Ataxia of uncertain aetiology (origin) 40 years ago - although I'd been displaying symptoms a lot earlier. So the whole thing is a moveable feast. I think 'bad luck' just about covers it all😀

Hi Harriet,

My condition was described as Idiopathic Spino-Cerebellar Syndrome approximately 12 years ago (2008) although some of the symptoms I recognised from as far back as 1978.

My own personal take on the 'diagnosis' issue is that I consider it to be largely irrelevant as, until there is some sort of cure/medication to mitigate my symptoms, knowing which SCA number I have is meaningless.

Over the years I've had MRI scans and blood tests which ruled out the likelihood of any identifiable genetic threat to my son.

As my wife has MS (diagnosed in 1986 - she is very much in remission) and my son has Diabetes 1 (diagnosed in 1996) we are well versed in dealing with various conditions so we concentrate on managing them as best we can.

In view of the above, having a more specific 'label' for my Ataxia is simply a semantic exercise.

I do recognise that my views differ from many others' but I consider being pragmatic is the most important thing.

My son has the same, his was caused by two bleeds on the brain at birth. He's now five years old has some issues with balance and fine motor skills also speach.

Hi

I have had numerous MRI's, blood tests etc over many years (I was told i have cerebellar ataxia & Peripheral Neuropathy n 1997), although nystagmus etc was obvious way before then & my GP said I had Regless Leg Syndrome in 1986 - was this actually the ataxia or the Peripheral neuropathy - makes me wonder?

I may 'never' know exactly. As nothing specific was identified, it's all up in the air & I just say I've got Cerebellar Ataxia.

It's a mystery for many of us but it doesn't alter anything. If you are informed of a specific type ie a SCA or something, then if there's ever a cure, it can be targeted but until then ...

Sorry for long winded response. In summary, no I don't feel the 'umbrella' term is clear cut.

It’s a really interesting question, because what purpose does a diagnosis serve for a problem that can’t be fixed? Access to therapeutic treatments? Access to services? Personal validation? Understanding from those around you? Labels are useful for all these reasons and more, and of course labels also come with problems, including not being descriptive enough.

For myself, the ‘diagnosis’ of an SCA helped me on many levels. Based on the stats I didn’t expect to get a clear cut genetic diagnosis and when I did get one, it didn’t add anything at all to my understanding or treatment (which may well change in the future, I realise).

My son’s diagnosis of ASD - as wide a diagnosis as that is - has been really helpful in so many ways. I readily accept the label ‘disabled’ on his behalf for the access that gives us to services, though I personally don’t consider him disabled.

Are you doing research for the magazine?

HarryB
HarryBAdministrator in reply to MaryRH

Hi MaryRH

No research. It is a personal question really, not on behalf of Ataxia UK.

I am not pushing to find a cause for my ataxia at all. I think it much more important to put my energy into managing my symptoms on a daily basis, and even after 30 years I am still learning! I do consider being told I have cerebellar ataxia to be a diagnosis, although not specific until the cause is discovered. I do not think of it as a label. It is simply the cause and nature of my physical difficulties.

I was and am just interested in others’ opinions, the variety of which I find very interesting in itself.

Thank you for your reply.

Harriet

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Hi Harriet. I do believe being diagnosed with cerebellar ataxia without a cause is still a true diagnosis. I have Ataxia without a known cause being found so far.

The diagnosis to me is more of a personal thing. I was diagnosed with ataxia of unknown origin. My story went like this. I woke up in a hospital bed near San Francisco after a long international flight, I could only remember the normal morning of preparing for the flight and boarding the plane. The doctors at the original hospital were just as perplexed as I. But after 6 weeks I was transferred to a skilled nursing facility and after 7 months of rehab I could get into a walker and be discharged. All of this left me with more questions than answers, 3 years later I have a bad fall and bruise my elbow and sternum. Another hospital stay and another 7 months rehab. During the 3 years I had done a lot of research on ataxia and different kinds. So during my last hospital stay I got admitted to the ataxia clinic at UCSF. There the doctors took the time to reconstruct what had happened. Also numerous MRI’s and blood tests. The nagging unanswered question I had was how does a healthy 54 year old walk onto an airplane and have to be wheeled off? The doctors at UCSF ataxia clinic determined that during the flight I had developed deep vein thrombosis resulting in a blood clot that went to the base of my spine. Knowing this did bring great personal relief. At least now when someone asks I have an answer.

Causes of Cerebellar Ataxia can be many.

Pick one healthline.com/health/acute...

It is so hard for doctors to diagnose unless DNA test shows SCA's caused by genetic defects

I think you trust your gut on this. Do you identify as having cerebellar ataxia? If so, and it brings you peace then trust that instinct. If however, you feel uncomfortable with the 'diagnosis' continue to push for further investigation. I found it hard to accept Beth's potential diagnosis without 'evidence' and pushed for further investigation, and in our instance it was worth it and they found a genetic mutation. I am more at peace now and it has changed things in that professionals no longer 'suggest' deterioration is due to things within our control, which has lifted a weight from my shoulders. I know we are lucky and many people just never know why, and that can be hard to accept, so I empathise.

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