Diagnosis and testing for OPMD

Hello all. As a young adult about a decade ago when I learned about my family history with OPMD I decided to check with my doctor about getting tested. She admitting not knowing about OPMD but did some research and suggested a genetic test. The genetic test came back negative.

Fast forward to today. I have started exhibiting a pretty obvious sign of OPMD which is the weakness in my eyelid muscles. It has started bothering me enough that I’ve had some consultations for surgery. My aunt that has OPMD says the only way to be properly tested for it is with a muscle biopsy. She has a lot of “unique” medical options though so I was wondering if anyone could shed some light on that topic.


That’s very interesting. I wonder if you have a variant in your family, as you seem to be describing the symptoms as well as family history.

Is there any way to return to the geneticist to ask follow up questions?

Sharon from ModSupport

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Unfortunately not as the genetic testing was through my primary care physician and I never interacted with the geneticist. I am also not in the state anymore.

What type of testing do most people here do to get a diagnosis?

That’s a shame. I wonder if you will ultimately need to start over.

You may want to do a search here on the site using key words such as testing, or diagnosis. See where that gets you in terms of other peoples process.

Sharon from ModSupport