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Genetic and Rare Diseases Information Center (GARD)

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Oculopharyngeal muscular dystrophy

Other Names for this Disease
  • Muscular dystrophy, oculopharyngeal
  • OPMD
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What causes oculopharyngeal muscular dystrophy?

Oculopharyngeal muscular dystrophy (OPMD) is caused by mutations in the PABPN1 gene. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. The protein acts to protect the mRNA from being broken down and allows it to move within the cell.[1]

Mutations in the PABPN1 gene that cause OPMD result in a PABPN1 protein that forms clumps within muscle cells, and hence they cannot be broken down. These clumps are thought to impair the normal function of muscle cells and eventually cause cells to die. The progressive loss of muscle cells most likely causes the muscle weakness seen in people with OPMD. It is not known why abnormal PABPN1 proteins seem to affect muscle cells in only certain parts of the body.[1]

Last updated: 5/2/2012

  1. Oculopharyngeal muscular dystrophy. Genetics Home Reference (GHR). December 2008; Accessed 12/8/2008.