Overlap of ataxic and spastic paraplegia phenotypes

[Buffergirl]

I have now seen a specialist Ataxia neurologist who thinks that my "upper motor neuron signs outweighed the signs of ataxia" and is to arrange for me to undergo further genetic testing for a range of genetic disorders including the hereditary spastic paraplegias which can cause the above overlap of phenotypes. Can anyone help or advise me about this as I have been given the most rudimentary report which, frustratingly, tells me nothing more?

[Ukalimcn]

Things mst be so tough for you at the moment. I have diagnosed SPG7 ( heriditary Spastic paraplegia), it took a long time for diagnosis but apart from occasionally using a walking stick and my balance is constantly affected, I have not many concerns apart from weeing frequently which UCLH are helping with.

I wish you well, if I can help further let me know

[wobblybee]

Hi🙂 It’s only natural to want to know as much as possible..but when you’re just starting out with testing it really isn’t helpful. It’s all too easy to be led off in the wrong direction, and cause yourself unnecessary stress.

There are numerous causes for ataxia symptoms, and several Neurological conditions can have an ‘overlap or link’..so it really is advisable to wait for the outcome of testing and try not to speculate. Best wishes 🙂

[Buffergirl in reply to wobblybee]

Thanks Wobblebee (as ever). I just found myself last night overthinking everything and experiencing anger mixed with 'depression.' It has taken over a year to get to see this latest specialist and I feel incredibly let down. We really don't come anywhere near top of the NHS priorities with this disorder! And those we eventually see don't seem to understand the impact of their solely negative predictions.

[wobblybee in reply to Buffergirl]

I’ve read your answer to Ukalimon

My diagnosis is Idiopathic/Sporadic Cerebellar Ataxia …and I also have an issue related to urinary frequency. This is fairly common no matter which type of ataxia is concerned. I’ve been referred for investigation..it’s possible treatment could make a big difference🙂

[Buffergirl in reply to wobblybee]

Am always worried about cystitis with any intervention, having had some pretty awful bouts in the past.

[wobblybee in reply to Buffergirl]

I empathise..a bladder infection is awful

I had investigations many years ago..and the aftermath is fresh even today. I was actually being investigated for pain around my ovaries, and they looked at my bladder at the same time.

Hopefully this time it can be dealt with differently

[Buffergirl]

Hi Ukalimon, thank you for your message. It really does help to speak to others with similar conditions.Yes, after seeing one neurologist who categorially called it ataxia and predicted upper limb issues, I've been anticipating those ever since but they haven't materialised (so grateful to him for this added stress!) I'm now given a new emotively/negatively loaded possibility. The name alone is likely to send you into a deep depression but I am at least reassured that you are coping well (frequent and urgent weeing has become quite problematic and I am interested to know what help is available).

[Tallguy101]

I too initially thought I just had Ataxia, however on a visit to UCLH even though I don't have a definite diagnoses I was explained to that HSP and Ataxia symptoms overlap. So imagine it like a ven diagram so the symptoms are overlapping. Hopefully more genetic testing will shed more light. I hope you find out for sure.

[Buffergirl in reply to Tallguy101]

Thanks. Think it's going to be a long wait as am still waiting for genetic testing results from end of last year!

[Buffergirl in reply to Tallguy101]

But what is it about seeing these doctors and being given these labels, knowing that they have no cure, that leaves me feeling better off and far more positive staying as far away from them as possible. All they've ever done is to set me back, I'm afraid. They simply don't understand enough.

[penelope2]

hi Buffergirl. I feel your pain and frustration. You have summed up doctors and their diagnosis of US and what it means to US so well.

Can remember even having a discussion with an experienced neurologist at UCLH about “labelling” and “self fulfilling prophecy”. I don’t think he got it!

Take care

[coat2003]

you require full genetic testing.Good luck at least you WILL KNOW WHAT'S WHAT.MX