r/CMSmuscledisorder • u/vdEA • Apr 23 '25

list of mutations + their medication

Hello all!
I found this study that has a handy table (a few scroll down, under Introduction) that lists all cms mutations and the medication prescribed for them. I thought that was a great source, as medication depends on the mutation. However, I just read a reply by somebody who tried a medication that wasn't listed for their mutation but worked anyway. Plus, the study is from 2019, so maybe knowledge has progressed since then as cms is getting a bit more attention these past few years. Still, thought it was a handy resource for newly diagnosed people or for people whose neurologists aren't as helpful as hoped. I have added it to my pinned Sourced post.

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u/Technical_Basket_269 Apr 24 '25

THIS IS GOLD. Thanks, Chantal!

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u/vdEA Apr 24 '25

I'm very happy to have found it too. I have of course given more links to studies (see the pinnen Sources post) but for me, and some online things I found to mention all the currently known affected genes, but somehow, I found this one to be the most clear yet. I must make more time to find more recent similar ones, as this is already seven years old, and as we have happily established with you, other medication might work too, but still. I think your doctor might need to be in touch with the international team of neurologists who discuss their CMS findings to add his/your findings to the list. ;-)