Ataxia - Hypermobility

General
1

Hi, let’s start from the beginning.

My mum has been disabled since i was about 6 (i am 33 now). My grandma who was her carer said that she never got diagnosis and that it was something to do with motorbike accident when mum was hit by a bike and hit her head on the pavement plus according to my grandma my mum was always a bit “weird”. Anyway, grandma died last year and i was going trough paperwork and i found that back in 1993 mum was diagnosed with Carebellar Atxia type 2 however since then it has not been mentioned anywhere, even through mum had several hospital visits/surgeries and is now in care home. All her paperwork says unknown neurological condition. However her symptoms fit with Ataxia however she lives in Poland and all the test results are on paper and it’s quite easy to hide it. I am worried my grandma wanted to cover it up so i don’t find out that it’s genetic.

Nobody else in my family has it (as far as i am concerned) but i am really worried about myself. I don’t have the symptoms yet. I had a bit of vertigo and dizziness but it got much better since i started taking Iron and Vitamins supplement plus I have been under a lot of stress in the last 12 months (redundancy at work, grandma’s death and mum had breast cancer). And i just found out I have severe hypermobility - i started going to physio because i had really bad headaches and stiff neck and he checked me and he said that he has never seen someone as hypermobile as i am. I always knew i was a bit more flexible but now when i started paying attention to it i noticed that its really bad. When i started yoga i freaked everyone out because i could bend/stretch so much.

Has anyone else had hypermobility and ataxia?? Are those 2 connected in some way??

I started having the dizziness and muscle aches again but they can be attributed to recent stress and/or hypermobility or Ataxia. I usually get it when i suddenly turn around or quickly look down. Other than that i am active, can drive a car, can do headstands, yoga, stand on one foot walk in straight line etc.

Thanks and sorry for a long post. It’s all new to me and i am really worried about this. especially since i have 2 kids and i am worried i could have passed the ataxia to them.

2

Hi Marlena and welcome :blush: Because of the discovery you’ve made, and weird symptoms you’ve experienced, for peace of mind I’d advise you to ask your GP to refer you to a Neurologist.

If you do actually have SCA2, it could be confirmed via a blood test but this will only be done by a Neurologist.

Bear in mind, if this is confirmed, in the UK we are legally obliged to inform the DVLA of the condition, no matter how little it effects you at the moment :smirk: But it doesn’t automatically mean you can’t drive. The DVLA will contact your Neurologist to verify the diagnosis, and may decide to issue a renewable 3yr license.

One my first symptoms was dizziness after bending, of course this can be related to numerous things but as it turned out, eventually I was told I had Cerebellar Ataxia :smirk: It was diagnosed after an MRI showed Atrophy of the Cerebellum, and took into account my history of symptoms. Currently, I’m not certain which specific type ( there are over 30 documented, and many, many more still to reach patient testing stage).

I totally understand, it is worrying, that you may inadvertently have passed a condition on to your children. My children are adults now, and I still watch them for signs of symptoms I first experienced :smirk:

This is obviously a great concern to you, so speak to your GP and ask for a referral based on the information you have discovered. :blush: xB