OPMD in New Mexico

Testing for Oculopharyngeal Muscular Dystrophy

How does a doctor know if someone has OPMD? First, a doctor looks for clinical signs, or symptoms, when diagnosing OPMD. These symptoms include: eyelid weaknes, throat weakness, other muscle weakness and family history. Then, the doctor can run a number of diagnostic tests.

What Diagnostic Tests Can Be Run?

• Blood Test - A blood sample is tested for OPMD triplet repeat in the PABPN1 gene
• EMG examination of muscle - Electrodiagnostic studies of the muscle may be performed
• Muscle biopsy - A small sample of muscle tissue can be microscopically examined