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 weakness, 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