Oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy, abbreviated OPMD, is a rare form of muscular dystrophy with symptoms that generally start when a person is 40 to 50 years old. It is an inherited neuromuscular disease, most commonly autosomal dominant, meaning only one copy of the mutated gene is needed and children of an affected parent have a 50 percent chance of inheriting it. Less often it is autosomal recessive, requiring two mutated copies, with both parents usually carriers who show no signs or symptoms. The mutation lies in the PABPN1 gene, where an expansion of a GCG trinucleotide repeat at the 5 prime end of the coding region leads to the dominant form of the disease.