Anyone else here do genetic testing, an MRI, an EMG, and consistently meet with their neurologist, only for them to tell you that they cannot give you a diagnosis, or is this just me? Mind you I have had progressive lower extremity weakness (including footdrop) since my late 30s, progressing to complete lack of balance, and relegation to a rollator for walking.
Did they find any problem with your cerebellum?
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Nothing as of yet. Everything was normal.
If it were the cerebellum they would see that quickly via MRI. There is another similar problem called Gluten Ataxia. Try a Gluten free diet.
I appreciate the wisdom. Thank you.
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Don’t expect immediate results from a Gluten free diet. Usually takes a few months to see any results if that’s the culprit.
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I had a genetic test with my sister and now it has been determine I have Niemann pick Type C instead of SCA 2. I should have known something was up, my cerebellum never changed
For me they found nothing in the genetic testing.
Did you look up Gluten-free diet on the internet? A friend of mine is on that diet. Plenty to eat and much variety.
Looking that up today.
Hi Derek, Welcome! I agree that it is worthwhile to test for gluten sensitivity-you can ask your PCP or neurologist if they would consider running a celiac panel before you consider going gluten free otherwise going gluten free before testing will skew the true results. When I was tested, I was one point below celiac a few years ago (highly gluten sensitive) went on a gluten free diet and was not expecting much difference. Over time I was shocked at how much I improved (over 90+%) from where I was. I have not been diagnosed with gluten ataxia officially yet, but my neurologist said the hallmark is substantial improvement and I think this qualifies for sure. My balance was terrible at the beginning-felt like I was being thrown around. Now I walk unaided around the house with a wobble, and just use a walking stick when I’m out in public since I can’t stop on a dime. And my cerebellum showed very little atrophy and has remained stable. It has been quite the journey but don’t give up on finding the cause. It’s out there.
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Same for me. Spinocerebella ataxia has been diagnosed based on symptoms and testing of reflexes etc. Scans a genetic testing did not reveal anything. Frustrating eh.
I’ve had 5 MRI’s, all normal, a good neuro opthamalogist, Bad neurologists and one of the best in the country, Susan Perlman, 4 or 5 genetic tests and a genome test- all negative. Dr Perlman at UCLA after 25 yrs of looking found I had SCA27B with a gene test at U. if Chicago ( very few places can do this accurately). I was diagnosed early by Dr Perlman as having SCA (type unknown) 25 yrs ago. Perhaps a more experienced specialist will serve you better. Not all docs are the same. BTW, drop foot isn’t a symptom I heard of as being part of SCA.
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haven’t thought of that. i just assumed my neurologist was competent.
Not all neuro docs know of SCA. They know of Ataxia but not SCA. It is very rare and most docs will never see a case of it