What is oculopharyngeal muscular dystrophy (OPMD)?
Oculopharyngeal muscular dystrophy is a late onset muscular dystrophy, which is characterized by progressive ptosis and dysphagia and commonly presents in the fifth to sixth decades.
Over time, patients may also develop tongue, laryngeal, facial weakness, and proximal muscle weakness.
Diplopia is uncommon, though patients may also develop extraocular dysfunction.
Due to the founder effect, the prevalence is higher in certain geographical areas including Quebec, Canada, Israel, and New Mexico.
The disease results from a GCG triplet repeat expansion in the poly(A) binding protein nuclear ( PABN1 ) gene and is usually inherited in an autosomal dominant fashion. CK is most often normal.
Diagnosis is made by genetic testing.
