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Diseases

Genetic and Rare Diseases Information Center (GARD)

Oculopharyngeal muscular dystrophy


Other Names for this Disease
  • OPMD
  • Muscular dystrophy, oculopharyngeal
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder characterized by slowly progressing muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. Onset is typically during adulthood, most often between 40 and 60 years of age. Symptoms may include: eyelid drooping (ptosis), arm and leg weakness, and difficulty swallowing (dysphagia).[1] There are two types of OPMD, distinguished by their patterns of inheritance. They are known as the autosomal dominant and autosomal recessive types.[2] Both types are caused by mutations in the PABPN1 gene.[1][2]Treatment depends on the signs and symptoms present in each individual. Ptosis and dysphagia can be managed with surgery; however, recurrence of symptoms commonly occurs 5-15 years after intervention.[1][3]
Last updated: 6/14/2016

References

  1. Michael Lee. Muscular Dystrophy, Oculopharyngeal. National Organization for Rare Disorders (NORD). 2012; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Muscular%20Dystrophy%2C%20Oculopharyngeal.
  2. Oculopharyngeal muscular dystrophy. Genetics Home Reference (GHR). December 2008; https://ghr.nlm.nih.gov/condition/oculopharyngeal-muscular-dystrophy.
  3. Pr John VISSING. Oculopharyngeal muscular dystrophy. Orphanet. May 2016; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Oculopharyngeal muscular dystrophy. This website is maintained by the National Library of Medicine.
  • The Muscular Dystrophy Association (MDA) provides additional information about oculopharyngeal muscular dystrophy in their publication entitled, Oculopharyngeal Muscular Dystrophy (OPMD)
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Oculopharyngeal muscular dystrophy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • OPMD
  • Muscular dystrophy, oculopharyngeal
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.