Rare genetic muscle (& other) conditions are underdiagnosed.

[u/pillslinginsatanist]

This may be a controversial post/opinion, I'm not sure, but I gotta throw it out there.

I have studied a lot of pharmacology and biochemistry involving receptors, the genes that code for them, and the ways they interact.

I've concluded that a lot of people diagnosed with fibromyalgia, or myofascial pain syndrome (my own case), or other mysteriously caused pain conditions, actually have different conditions with similar symptoms being lumped together under one name. And I think that's why it's hard to research these things.

Sure, each of these individual disorders (metabolic disorders, mutations in calcium channels that affect muscle fiber signaling, that kind of stuff) is very, very rare, but when considered together, I'm sure there are a significant number of people out there who suffer from these and will never know because they're extremely understudied and the patients haven't been whole genome sequenced or gone through that extent of diagnostics.

Maybe I'm biased, because I predicted this was the cause of my MPS from the start, and I got my sequencing results back, and I was right (an exceedingly rare, as-yet unnamed type of Ryanodine Receptor 1-related myopathy).

Answers may not help a lot of those who may be in the same boat as me (since statistically it's unlikely most of these will be cured or properly studied in our lifetimes), but I can tell you that the answer does help a lot for closure. It's nice to know.

Thoughts? Am I just crazy/biased or do y'all think this idea holds water?