Anyone with episodic ataxia type 2?

Hi! My son had genetic testing done and they found a variant in the CANAC1A Gene that causes episodic ataxia type 2. So far he has balance issues and is a bit delayed in fine motor skills. He is almost three years old. I wanted to know what the episodes look like because I don’t know if he has ever had one. Any of you with Episodic Ataxia type 2? Can they attend regular school?


Hi :slightly_smiling_face: Mariaguerra, It might be helpful for you to log onto

Also, on Facebook, there’s a group ‘Paediatric Cerebellar Atrophy Support’.

:slightly_smiling_face: xB

Thanks so much Beryl_Park !!

Do you get the attacks often? Are the completely disabling? I just want my son to have as normal life as possible. It saddens me after reading how much these episodes attack everyone and that’s is a progressive disease.

B🙂 For me, and possibly because challenging symptoms started much later than childhood, it seems as though every couple of weeks I have a bout of deep fatigue and downturn in symptoms.

But, I have to stress, there are so many variations in symptoms anyway, that it’s unwise to be guided too strongly by other people’s experiences. And, in the case of children, a specialist Neurologist’s advice can be invaluable.

Speaking for myself, I still walk :slightly_smiling_face: Although to be on the safe side I use a walking stick to help balance and avoid falling off kerbs, and I have a rollator for especially wobbly days.

Although there is no link in my immediate family, it’s possible that there’s a Recessive link somewhere. That means, either parent could have been a carrier, unknowingly passing down a mutant gene, while staying unaffected themselves.

As adults with ataxia, generally speaking we’re advised to stay as active as possible, exercising within our capabilities but staying safe :slightly_smiling_face:I would imagine the advice would be pretty much the same for children, although usually they’re active enough anyway :wink: Advice from a Neurophysiotherapist can make a lot of difference, the average Physiotherapist often doesn’t understand the complex difficulties that can be associated with ataxia.

Be guided by the Neurologist, your son will likely have yearly reviews and his progress will be monitored. Ataxia is so variable and unpredictable that trying to forecast what’s actually ahead is virtually impossible at this stage.

Definitely familiarise yourself with general information on so that you can have essential questions ready for the appointment. Most people would agree that once you get face to face with a Neurologist, logic flies out of the window :smirk: Stress kicks in, and with the best will in the world, memory fails you. Write questions down, if there’s something you don’t understand or even if it’s the medical terminology used, ask for it to be repeated. And remember, nothing is too trivial to ask :slightly_smiling_face:xB

Thanks so so much for your advice!! He is very very active, plays tennis and is very coordinated when it comes to catching and kicking a ball. I really hope this doesn’t get in the way with his physical activity because he is non stop!

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