Hello there. I’ve been doing quite a bit of reading on this site and I appreciate everyone’s time and information.
My wife has been diagnosed with Ataxia through medical examination and MRI. We are moving forward with genetic and other non-genetic testing to better understand more specifically the type or cause of her diagnosis.
She shows elevated antithyroid antibodies, but otherwise her thyroid is normal. Her family has a strong history of autoimmune disease, specifically related to thyroid.
Both her parents are in their mid-70’s and show no signs of Ataxia, nor any of her siblings or extended family (22 1st cousins, uncles, aunts, etc…).
We have two children and are very concerned that they may be genetically affected, but won’t know much more until we have definitive test results.
I’m curious as to other’s experience related to Ataxia and no-family history, specifically with a diagnosed Dominate gene. Is it possible to still be dominant if you have no family history? I have heard of de novo, but understand it to be not common.
Thank you for your time.
In my case, I have no family history of ataxia but I do have classic symptoms. An MRI showed mild Cerebellar Atrophy but not enough to account for the severity of symptoms. DNA testing linked me with a Recessive Ataxia Gene, Syne1. The link is only around 80% so something else is suspected as well. My paternal grandmother was a Carrier for Muscular Dystrophy, one of the types of this is linked with Syne1. My father was unaffected but it’s possible I could be a Manifesting Carrier.