Hi Caroline,
When I tested for SCA-13 a few months ago, a variant "of unknown clinical significance" was identified on the KCNC3 gene (potassium voltage channel)...The only way to research this further, I've been told, is to have my affected brother tested, and if he too has the variant, then maybe it means something. Otherwise, it's just a fluke, I guess. (Ironically enough, though, all roads lead to neurodegeneration of
some sort, as per Google...) Oh, and FYI -- the two families that have been given the SCA-13 tag had MISSENSE MUTATIONS of the same gene. One family (Filipino, I think) had juvenile onset, with mental retardation; the other family (French, I think), had adult onset, with progressive ataxia only. The two commonalities seem to be the affected gene and ataxia of some sort, nothing else...
Anyway, getting back to myoclonic jerks -- I tried the heel test, and yes. There's shaking. Darn. I'll definitely mention this on Friday. But hopefully, regardless of the actual science it is and being able to see it, I hope that he prescribes Baclofen. I really want to reap from its sleeping aid quality as it relaxes my muscles.
Re: MRI -- my brain MRI of 2005 captured 'mild to moderate cerebellar atrophy,' and that is what's throwing things off re: DX...Does any kind of
MND have cerebellar atrophy as a symptom? I haven't been able to find anything, as of yet. And another question is re: heredity -- once again, does any kind of
MND have heredity involved?
Thanks so much,
Christina