Episodic Ataxia..basic info

:slightly_smiling_face: This is basic information relating to Episodic Ataxia.



Very interesting. I have some of these symptoms: flickering muscles especially eyelids and less commonly the eye itself and other places. I am very surprised as well that it says seizures cos I’ve had a few. This is all on top of the usual ataxian symptoms. My neuro has said that particular symptom is epilepsy or pre-epilepsy but having read this … well a chap can wonder can’t he? My ataxia is definitely not hereditary though but could there be something in this?

:roll_eyes:I was prescribed Sodium Valproate at one time.

:thinking: I have no family history either. Initially I’d being having Deja vu on a regular basis, and I had a seizure in my sleep and woke up in hospital ( my husband thought I was having a stroke). So my very first Neurologist specialised in Epilepsy. Despite tests being unable to provoke any sign of a seizure, I was diagnosed with Temporal Lobe Epilepsy. It took me years (with ataxia symptoms worsening) to get that diagnosis dismissed, even though I had no further seizures.

Currently, my general ataxia symptoms are worsening, I notice that after my last fall a few weeks ago, there has been a significant change. Although I haven’t tested positive for any of the current EAs, or any of the identified SCAs, my Neurologist thinks my pattern of symptoms (cycles) may be associated to a yet to be identified EA. Although, I have a proven genetic link with SYNE1 (but less than 100%).

It’s certainly a conundrum :wink:

Mmm. It seems to me that all neuro-s deal with epilepsy so often that epilepsy is their first conclusion, whereas (as I’ve said elsewhere) I hold ataxia guilty for everything until it’s proven innocent. Apart from that, I’ll just say thank you for allowing a chap to wonder.

My Neuro just ordered an HSP Panel in 2013, and I was diagnosed with HSP SPG7 with ataxia. That is the definition of Episodic Ataxia. Right? I had no idea there were genes for that too until now. Does that mean I have an unidentified EA gene too? Now that I understand it better, I’m questioning why he just tested me for the HSPs and not other diseases. I had never even thought of genetic testing until he mentioned it. I guess he knew my insurance was good for it.

:slightly_smiling_face: Hi janie, Welcome. :thinking: As far as I know, the diagnosis you were given re SPG7 has no link with Episodic Ataxia. But, your Neurologist would be able to confirm if that is correct. Have look at the following link, you may or may not have read this.[https://rarediseases.org/rare-diseases/hereditary-spastic-paraplegia