Adult onset sporadic ataxias: a diagnostic challenge!


Adult onset sporadic ataxias: a diagnostic challenge!

No wonder it can be so time consuming to get a definite diagnosis when the type isn’t immediately identifiable as being an already discovered SCA :smirk: I read through, and just before the final comments, something jumped out at me :hushed:

‘ Finally, Sporadic Ataxia may be the Clinical presentation of new mutations recently described in Autosomal Recessive Ataxias with adult onset symptoms, such as SYNE1 Mutations’

Full genome sequencing gave me an 80+ % link with SYNE1.

I know SYNE1 is linked to several conditions. I expect to have further tests in August :slightly_smiling_face: xB

August is close! Much closer when 40 is approaching!
It’s not bad when you feel 80 :wink:

Do you have to go far for your testing?

:slightly_smiling_face: I have to travel to London, about 250 Miles. It’s going to be expensive, taking into account return train fares, Hotel for 2 nights, taxis etc :smirk: But, I’m optimistic :slightly_smiling_face: The Hospital has a very good reputation, they offered me an appointmenth, so I don’t think it would be on a whim :wink: BTW Louise, I’m a hop and a skip from 80 :wink: xB

Make it a mini vacay, ha!

That is a long way isn’t it!

I have been to Southend particularly about 20 times. I was the girl who went to her Nanas for summer break or spring break.
That would be an hour trip to London and I remember it well.
I’d have to really get myself together and honestly make it an adventure.
Anyway, testing or an appt a month or two away is progress so therefore has to be good! See how I did that when really we know it’s like a bloody marathon and unfair you have to struggle! xo

Speaking of Advenrure. Did you ever read The Famous Five by Enid Blyton?

Loved their adventures xo

:+1: Yes, loved The Famous Five :slightly_smiling_face: Absolutely, loved reading as a child :slightly_smiling_face: I once walked home reading a book, I walked into a lamp post (true) :joy: xB

My best guess is I have either SAOA or MSA-C but I will ask my Doctor next time (may need to change my screen name !)

Chapter 14 – Sporadic adult-onset ataxia

That’s too funny Beryl! I loved to read tho books on my train rides to relatives houses for tea xo

:slightly_smiling_face: Thank you for this explanation, whatever your eventual screen name :wink: It gives a clearer picture of the definition Sporadic, and the tests that lead to this specific diagnosis. Personally, I was never totally clear about the exact difference between ‘Sporadic Ataxia’ and ‘Acquired Ataxia’. The only information I’d come across referred to causes, and could apply to both these diagnosis.

As it happens, and I’m sure the person I refer to won’t mind, one of our members was diagnosed as Sporadic for quite some time, then the diagnosis was changed to Niemann Pick Disease.

As usual finding an exact cause can be like negotiating a labyrinth :wink: xB

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