Spastic ataxia type one

[Daisychain18]

Hi I've finally got my diagnosis after getting my genetic testing back of spastic ataxia type one. I'm waiting to see a specialist in this area hopefully but been told by my current neurologist that it's a very rare condition so wondered if anyone else out there has this or knows someone who has? And if so do they have any information about it?

Many thanks Ann

[angelite]

Hi Ann,

I couldn't pull any info on this when I searched - must be rare ! Has it been a long path to diagnosis ? I have had spasticity for a few years and more marked ataxia since a relapse - still awaiting investigation for possible MS. How are your symptoms affecting you ?

Angela x

[Daisychain18 in reply to angelite]

Hi Angela

Yes it is rare. The genetic testing centre have never come across it before!!! I know there's been a family in Canada. I just wondered if anyone knew anything about it. It's taken just over 2years for my diagnosis and they thought it had been a lot of other things along the way as they all have similar symptoms. I think they were testing my genes for hereditary spastic paraplegia when they found this mutation instead!!! When abbreviated it's called SPAX1. I do hope you get some answers soon as the waiting is the hard part isn't it! All the best for the future.

Ann

[Helen555]

My daughter and granddaughter has just been diagnosed with episodic ataxia type one it's very rare they take seizure type spells and slurred speech sore legs bad tremor etc