Had some results back

[Daisychain18]

Hi I'm a new member and needing some answers. I've been under a neurologist for the past 18 months where I've had lots of tests done and have symptoms that have left me with a disability. The genetic tests have come back to my GP which says I have a mutation that is in keeping with spastic ataxia type 1. The letter says my case has been passed on to an ataxia specialist but I'm still waiting to hear from them, so in the mean time I'm over thinking things! I'm wondering if anyone can tell me what these results mean exactly as I can't find anything that says spastic ataxia only spinocerebellar ataxia?

[Iain_100]

Hi and welcome!

First, try not to over-think things. Easier said than done, I know. But it just leads to a lot of worry - and solves nothing.

As for your query, maybe somebody with more knowledge in this area will advise you better, but as far as I'm aware there is no real difference. Spinocerebellar ataxia causes spasticity. So I'm GUESSING that the "type 1" you refer to, is really SCA1.

Playing the waiting game, is tough. I hope that you don't have to wait too long to see a specialist.

Iain

[Daisychain18 in reply to Iain_100]

Thank you for answering iain👍

[wobblybee]

Hi Daisychain😊

Join the club, we are all prone to overthinking, and in my case overgoogling 🙄

Helpful reading - log onto ataxia.org the National Ataxia Foundation. Click on the first box 'LEARN'. Look for FACT SHEETS.

Ataxia Classification FAQ - Ataxia FAQ - Ataxia a complex group of disorders

Evaluation and Management of Ataxic Disorders - an overview for Physicians

Preparing for a visit to a Neurologist ( How to have a productive Neurologist appt

SCA1

Also, contact AtaxiaUK. You'll be sent an information pack, including helpful notes for your GP. Log onto ataxia.org.uk for additional information, including a link to Ataxia Support Groups😊

Thinking back to 'overthinking'. I have got another suggestion BUT, this is just so you can ask your Neurologist. Google 'genetics home reference' and search for ARSACS.

It's a spastic ataxia.

Above all else, keep calm. Aquaint yourself with ataxia facts. Try not to fixate on anything. Neurologists appear to respond well to an educated patient😊xB

[Daisychain18 in reply to wobblybee]

Thank for all the information I will take a look 👍🏻

[february]

Dear Daisychain, I must echo what others have said, try not to over-think it! Was diagnosed with ataxia twelve years ago, although had minor symptoms starting about eight years before diagnosis. That adds up to 20 years and I still don't know what kind I may have. My first neurologist said "in time a cause will reveal itself". I gave some blood just today that is going to be sent out for genetic "exome" testing. Try to exercise (safely) for strength and balance, as well as eating as healthy as possible. My best to you..., ;o)

[Daisychain18 in reply to february]

Thank you for your kind words👍🏻 I try to keep moving and walk about 200m each day and I'm vegetarian so eat healthy anyway. It's a long waiting game! I will try and put it to the back of my mind a bit.

[2rayvon4 in reply to Daisychain18]

Hi! I was officially diagnosed with cerebellar ataxia two years ago but had started experiencing problems with balance in early 2011, since when it has always been on my mind. I am very guilty of overthinking matters (whatever they might be!). It is a constant battle for me to counter this but, when I am less anxious, I do function better. As others have said it is not easy, but can help. I accept it is part of my make-up, and do try to be more positive and accepting but, true, it can be easier said than done. Keep trying!

Best Wishes. Ann