Oculopharyngeal Muscular Dystrophy

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant disorder caused by mutations in the PABPN1 gene, encoding polyadenylate-binding protein 2. The condition is characterized by progressive ptosis, dysphagia and weakness of the muscles of the face, neck, and extraocular muscles.

**Synonyms:** - OPMD