Oculopharyngeal muscular dystrophy

Common Name(s)

Oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is a genetic muscle disorder with onset during adulthood, most often between 40 and 60 years of age. This condition is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat.  There are two types of OPMD, which are distinguished by their patterns of inheritance. They are known as the autosomal dominant and autosomal recessive types. Both types are caused by mutations in the PABPN1 gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Oculopharyngeal muscular dystrophy" for support, advocacy or research.

Logo
Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Last Updated: 15 Jul 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Oculopharyngeal muscular dystrophy" for support, advocacy or research.

Logo
Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 15 Jul 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Oculopharyngeal muscular dystrophy" returned 39 free, full-text research articles on human participants. First 3 results:

Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis.
 

Author(s): Aymeric Chartier, Pierre Klein, Stéphanie Pierson, Nicolas Barbezier, Teresa Gidaro, François Casas, Steven Carberry, Paul Dowling, Laurie Maynadier, Maëlle Bellec, Martine Oloko, Claude Jardel, Bodo Moritz, George Dickson, Vincent Mouly, Kay Ohlendieck, Gillian Butler-Browne, Capucine Trollet, Martine Simonelig

Journal:

 

Oculopharyngeal muscular dystrophy (OPMD), a late-onset disorder characterized by progressive degeneration of specific muscles, results from the extension of a polyalanine tract in poly(A) binding protein nuclear 1 (PABPN1). While the roles of PABPN1 in nuclear polyadenylation and ...

Last Updated: 30 Mar 2015

Go To URL
Hip flexion weakness is associated with impaired mobility in oculopharyngeal muscular dystrophy: a retrospective study with implications for trial design.
 

Author(s): Sarah Youssof, Ronald Schrader, David Bear, Leslie Morrison

Journal: Neuromuscul. Disord.. 2015 Mar;25(3):238-46.

 

Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy for which validated outcome measures are lacking, posing a barrier to clinical trials. Our goal was to identify factors associated with impaired mobility in OPMD in order to guide development of surrogate endpoints in future ...

Last Updated: 9 Mar 2015

Go To URL
Neglected conditions: Oculopharyngeal muscular dystrophy.
 

Author(s): Michel J Belliveau, Martin W ten Hove

Journal: CMAJ. 2014 Apr;186(6):453.

 

Last Updated: 1 Apr 2014

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Oculopharyngeal muscular dystrophy" returned 4 free, full-text review articles on human participants. First 3 results:

Oculopharyngeal muscular dystrophy --an under-diagnosed disease in China? Report a China-born Chinese with PABPN1 mutation and epidemiology review of the literature.
 

Author(s): Yu-Yi Chien

Journal: J. Formos. Med. Assoc.. 2012 Jul;111(7):397-402.

 

Most reports about oculopharyngeal muscular dystrophy (OPMD) have been contributed by occidental countries, and most of the victims of this disease are racially white. In contrast, this disorder is rarely seen in Asians and has only one African report. Consequently, OPMD has been ...

Last Updated: 23 Jul 2012

Go To URL
Oculopharyngeal muscular dystrophy: a case report and review of the literature.
 

Author(s): Elena Hernández-Montero, Margarita Mesa-Marrero, Begoña de Frías-Berzosa, Pilar Rivas-Lacarte

Journal: Acta Otorrinolaringol Esp. ;63(6):482-4.

 

Oculopharyngeal muscular dystrophy is an infrequent, not widely known entity. Of genetic origin, it usually shows up in the 5th or 6th decade of life. Most cases are referred directly to the gastroenterologist by their general practitioner and not to the otolaryngologist, so it is ...

Last Updated: 19 Nov 2012

Go To URL
Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies.
 

Author(s): Aida Abu-Baker, Guy A Rouleau

Journal: Biochim. Biophys. Acta. 2007 Feb;1772(2):173-85.

 

Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by progressive eyelid drooping, swallowing difficulties and proximal limb weakness. OPMD is caused by a small expansion of a short polyalanine tract in the poly (A) binding protein nuclear 1 protein ...

Last Updated: 26 Jan 2007

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Effect of Aerobic Training in Patients With Oculopharyngeal Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Oculopharyngeal Muscular Dystrophy

 

Last Updated: 5 Jun 2014

Go to URL