I’ve suffered from episodic ataxia type 2 all my life?


I’m a 25 year old female and for the last 10 months I’ve suffered from chronic dizziness. I’ve experienced tremor in my left hand – most noticeably in the little finger and finger besides that one – for about a year. I also have increasing fatigue, aching and burning muscles, pressure in my left ear, mild swelling on the left side of my face, blurred vision and tearing in the left eye, and increasing muscle weakness. Today I’ve noticed the tremor has spread to my right hand, and I have an ongoing pulse-like spasm on the left side of my stomach, just below my belly button. I’ve been seeing a neurologist who believes I’ve suffered from episodic ataxia type 2 all my life (I’ve had vertigo attacks every 4 months since I was born). But as this kind of ataxia isn’t degenerative he’s struggling to understand what could be causing the rest of my symptoms. I’ve had an MRI which was clear for lesions etc and they don’t think it’s MS, but I’ve had to leave my job as I can no longer work a full day. I am now thoroughly miserable, and no-one can tell me what’s damaging the nerves to such an extent that I’m dizzy constantly, and the muscle weakness and fatigue are increasing – with particular pain in my neck and at the base of my skull. I’ve had my thyroid tested in the standard tests, and a vitamin panel done, and that all seems normal – but I do have a benign nodule in my thyroid which showed up on an ultrasound I had taken of the left side of my face and neck. The doctors think that because my levels are normal though, this isn’t the culprit.

I’m seeing my neurologist again next week but I want to come armed with some knowledge, because I have no idea where to look for next for answers. I feel like my life has been stolen away, and I just want a diagnosis. If any of these symptoms sound familiar to anyone, please get in touch and let me know. I just need to know where I should be looking – I know something has gone wrong in my body, I just don’t know where!

Many thanks in advance for your help.

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Ayman Darrag
7:41 am

Hi and welcome to question doctors.com
Have you done a brain MRI ?
The symptoms are common with many upper motor neuron lesions..
It could be EA2 its diagnosis is established by identification of a heterozygous pathogenic variant in CACNA1A.