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

Not sure if this would be at all relevant to the situation, but according to one genetic testing agency:

Patients of Bukharan Jewish descent with suspected OPMD as well as additional visual features may consider sequencing the NRL gene in addition to performing molecular testing of PABPN1 (Newman et al. 2016. PubMed ID: 27732723; Braverman et al. 2017. PubMed ID: 28590779).

Of note, two recent studies have shown linkage, in Bukharan Jewish patients, between an OMPD full penetrance allele (see Genetics section) and a pathogenic variant in the nearby NRL gene (Newman et al. 2016. PubMed ID: 27732723; Braverman et al. 2017. PubMed ID: 28590779). The reported patients homozygous for both the PABPN1 and NRL variants presented with early-onset OPMD as well as severe, slowly progressive visual loss including night blindness and reduced visual acuity.

I know it has been a while since you posted that question. My thought would be to get retested as testing has improved over the years. my neurologist used Athena Diagnostics in MA for the testing. Which I was positive. But my sister just went to her pcp and they figured out the testing. here is the information I got from the Athena Diagnostics catalog.

Test Details

Test code: 300
Type of disorder: Neuromuscular Disorders
Disease(s) tested for: Oculopharyngeal Muscular Dystrophy (OPMD)
Genes Included: PABPN1
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information

Clinical Significance: Detects GCN trinucleotide expansions in the PABPN1 gene in patients with a late onset of weakness, wasting of the facial muscles, ophthalmoplegia and ptosis.
Methodology: Repeat Expansion Detection by PCR
Reference Range: Normal: <=10 GCG trinucleotide repeats

CPT Coding

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

CPT: 81312(1)

Specimen Requirements

|Specimen Type:|Whole blood|

your doctor would need to order it but i had my results in 11 days.
Good Luck to you!

Just joined this and I see posts get old without a response. As far as I know and have been told by my excellent physician the only definitive test for OPMD is the genetic one. Good luck.