My Episodic Ataxia : Hey my name is Darcy & was... - Ataxia UK

Ataxia UK
3,332 members3,584 posts

My Episodic Ataxia

Episodic_Ataxia
Episodic_Ataxia

Hey my name is Darcy & was diagnosed with Episodic Ataxia type2 based only on symptoms & having a family history of Episodic Ataxia as well as how long my episodes seem to last. At the time of diagnosis, they’d last about 3-4 hours each time, associated with vertigo, nausea, vomiting, tremors during episodes, the need for a wheelchair during them and have persistent nystagmus for the most part. I was put on medication diamox to help control some of it. For the most part has limited how often my dizziness and vomiting, sickness happens but doesn’t take away all the symptoms. But still get sick on occasion, well I’ve recently noticed new things happening like getting tremors without being in an episode, jerky movements in my arms & legs during episodes, some muscle twitching on occasion, but the tremors I experience daily about. My MRI in 2017 was normal then and had a cat scan in 2009 which was normal which I don’t understand because as it runs in my family, my other family members had cerebellar shrinkage but I didn’t if we are supposed to have the same thing not to mention inconclusive genetic testing?? Why could that be? If anyone knows? Also I read about EA1 & what I read is that they have the muscle twitches and tremors as well as the jerking in arms , legs or whatever but I’m diagnosed with EA2 on average now my episodes last anywhere between 30-45 minutes but on occasion up to 2 hours with loss of balance that lasts a second or two but can happen multiple times a day. If anyone can give me some insight please do I feel a bit confused. Thanks

14 Replies
oldestnewest

welcome darcy. i'm sorry you are going through this. unfortunately, neurologists know next to nothing about the neurological system.... and it's their speciality! it's good you have a starting place and they are taking into consideration your family history.

I, too, have periods where my ataxia is worse. I assumed at first it was b/c of activities, like if I did too much, it would be worse, but that's not it. I have an unspecified ataxia and I can go months where I almost walk normally... then I notice i'm tripping more and the next thing I know, i'm in full on ataxic gait.

I have dystonia as well, which affects my muscles in my neck, hands, and legs, with painful spasms. some of whatever it is seems positional. if I sit a certain way, my left leg kicks whenever it feels like it, super annoying! I mostly experience dizziness when I turn to the right for whatever reason. I should add I had transverse myelitis with a lesion on the spine that showed up... followed by years of new symptoms indicating the presence of lesions that didn't show up on the mri. the tests are not infallible, unfortunately. it is possible to have clean mri's and neurological disorders. for some people, the tests never accurately reflect what's going on, for others it takes a while for the damage to build up before it will show.

I've not heard of Diamox; does it help? have your docs suggested possible further testing or treatments?

welcome again, it's a good place full of kind people. stay strong.

Diamox helps me but partially. For the most part it has helped how often I get dizzy or sick from it. More testing? No not yet I’m still waiting to for my next appointment to see about my daily tremors I get and ect. Since I’m experiencing some newer symptoms so we’ll see what they say. Thanks for your reply.

Diamox doesn’t seem to help my tremors or balance troubles I get. Just feeling of dizziness and vomiting and being sick due to my ataxia

🙂 Diamox is more commonly known as Acetazolamide.

I know it is here too

I've had it for over 40 years now. At first it was diagnosed as menieres disease, despite having seen several neurologist. Then around 2004 I saw a neurologist who diagnosed EA2, and put me on diamox. The vertigo gradually decreased, and I eventually came off the medication. I still had balance problems, light headedness and the occasional vertigo attack. Then last year it came back with a vengeance. Vertigo lasting up to 32 hours. The last scan I had showed no shrinkage of the cerebellum, I don't get tremors. I'm back on diamox and again this has controlled the vertigo attacks. I've not had any for nearly six months now. Had genetic testing done, but this was inconclusive. Waiting to see neurologist, but due to present situation this could probably be awhile. In my case the ataxia definitely episodic, I can go years without any major problems. Have you discussed increasing the diamox with your doctor. My neurologist initially put me on 250mg 3 times a day, eventually this was upped to 5 a day, and even 6 a day if I needed it. I found the 5 a day did improve things dramatically. Once I settled down I gradually decreased these to 4 then 3 a day, which I am presently on. Hopefully, things may settle down for you. I was in a wheelchair for much of last year, but I'm now able to walk about unaided. Try not to let it get you down, I held down a full time job as a teacher, but am now retired. Take things easy, and rest as often as you can, and need to. Good luck.

It controls my vertigo for most part I still have gotten it at times.. but I have limited myself of certain triggers an I use a wheelchair when I go out

Thanks you.. I’m on the max dose of the medication they won’t let me go any higher.

My name is vinu radhakrishnan, from India. I have sca2. my father was ataxia and living now with the help of wheel chair. I am 36yers old..I feel some balance problem at the age of 30. It is a genetic disorder so iam not married.

auntiesally
auntiesally in reply to vinupr

Hello Vinupr, hope you are keeping safe and your Dad as well, I use a wheelchair but only when we go out. I wall walk at home and use a 3 wheeled walker downstairs, are you not married because of the condition?

Hi Darcy, There is a test for Episodic Ataxia type 2. I was tested last year and the results came back negative. This was done through a blood test.

I have just been prescribed Gabapentin at a low dose to help with my Nystagmus. It’s early days at the mo but does seem to help a little x

Sorry, forgot to say I have SCA3 x

Thanks everyone for commenting.. I’m so close to having my previous genetic testing results in hand. I found the doctor that did them. Just waiting on call back, about them. My current neurologist would be happy to see it as well. I have unspecified Ataxia but is suspected to be Episodic Ataxia type2 however all I know is genetic testing was inconclusive and not helpful but I didn’t know what Ataxia type(s) was tested so future testing for a more accurate diagnosis may be possible, or to confirm this one as an absolute confirmed diagnosis.

You may also like...