mEDS and/or Bethlem Myopathy
Hello all! I recently had a genetic test done through GeneDx and got these results. I had a follow up with a genetic counselor and she told me that when she saw the results she questioned GeneDx's interpretation of the results, which to the best of my understanding means she wondered why GeneDx gave greater weight to the COL12A1 variant (listing it as causative) and lesser weight to the COL6A1 (listing it as possibly associated w/). She spoke to them and they said they stand by their assessment but the counselor said that when she pressed them on it, they admitted that if they had not found the COL12A1 variant first, they would have listed the COL6A1 as a dominant variant. She said she believed I had both variants, which I guess would be almost unheard of, but she firmly believed that was the case.
All that said, I understand that collagen 12 and collagen 6 have a lot of overlap and that COL12A1 disorders are listed as myopathic Ehlers Danlos/Bethem Myopathy 2, while COL6A1 is often referred to as Bethlem Myopathy 1. I guess my question would be - does anyone else have similar results and if so, is there any way to predict how it will affect me? I'm asking because, to the best of my understanding, you can have stable or increased muscle function across time with mEDS but Bethlem Myopathy it sounds like causes muscle weakness over time. So, I'm trying to wrap my head around what to expect.
Maybe those are bad questions to ask, and if so, maybe someone with mEDS can tell me how to best go about getting more specifics. Thanks!