Oculopharyngeal Muscular Dystrophy

What is oculopharyngeal muscular dystrophy?

Oculopharyngeal muscular dystrophy (OPMD) is an inherited, adult-onset form of muscular dystrophy that, while found worldwide, affects French Canadian and Jewish populations more frequently. The estimated prevalence in the French-Canadian population of Quebec is 1 in 1,000 people.

OPMD is caused by a mutation in the PABPN1 gene.

Symptoms may include:

  • difficulty swallowing (dysphagia)
  • tongue weakness and atrophy
  • weakness in the proximal muscles
  • drooping eyelids (ptosis)
  • difficulty gazing upwards and double vision (diplopia)

Treatment may include:

  • surgery
  • speech and occupational therapy

 

 

Current Research Projects

Characterization of a novel function for PABPN1: the product of the oculopharyngeal muscular dystrophy disease gene (2010-2015) François Bachand, PhD Université de Sherbrooke

The genetic mutation responsible for OPMD is known, but nothing is known about the underlying mechanism by which the mutation causes OPMD. Dr. Bachand and his team are investigating the function of the responsible gene, called PABPN1. Their work could address why OPMD is limited to specific muscles and open the way to new treatments.

 

Useful Links

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