D2I2.
genetic

Oculopharyngeal muscular dystrophy

Oculopharyngeal muscular (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. It can be disease or autosomal . The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be present in each cell. Children of an affected parent have a 50% chance of inheriting the mutant gene.

Underlined words are explained — tap any of them.

Symptoms — what it feels like

  • ·Dysphagia

Causes — why it happens

  • · on the PABPN1 gene

How it's found

  • ·Muscle

Treatment

  • ·Orthopedic devices for management
Plain-language summary adapted from Wikipedia. Not medical advice.