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: 8 Mar 2010

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: 8 Mar 2010

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 31 free, full-text research articles on human participants. First 3 results:

The NIH Office of Rare Diseases Research patient registry Standard: a report from the University of New Mexico's Oculopharyngeal Muscular Dystrophy Patient Registry.
 

Author(s): Shamsi Daneshvari, Sarah Youssof, Philip J Kroth

Journal:

 

Patient registries remove barriers to performing research by assembling patient cohorts and data in a systematic, efficient, and proactive manner. Consequently, registries are a valuable strategy for facilitating research and scientific discovery. Registries for rare diseases are ...

Last Updated: 19 Feb 2014

Go To URL
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?
 

Author(s): Sergiu C Blumen, Anat Kesler, Ron Dabby, Stavit Shalev, Morad Khayat, Yechoshua Almog, Joseph Zoldan, Felix Benninger, Vivian E Drory, Michael Gurevich, Menachem Sadeh, Bernard Brais, Itzhak Braverman

Journal: Isr. Med. Assoc. J.. 2013 Dec;15(12):748-52.

 

Oculopharyngeal muscular dystrophy (OPMD) produced by the (GCG)13 expansion mutation in the PABPN1 gene is frequent among Uzbek Jews in Israel.

Last Updated: 23 Jan 2014

Go To URL
Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong.
 

Author(s): H M Luk, Ivan F M Lo, K H Fu, Colin H T Lui, Tony M F Tong, Daniel H C Chan, Stephen T S Lam

Journal: Hong Kong Med J. 2013 Dec;19(6):556-9.

 

Despite the advances in the understanding of the molecular basis for oculopharyngeal muscular dystrophy in the last decade, it remains an underdiagnosed disease, especially among the Chinese. In the presence of a positive family history and late-onset ptosis, dysphagia, and proximal ...

Last Updated: 6 Dec 2013

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 3 free, full-text review articles on human participants. First 3 results:

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
Oculopharyngeal muscular dystrophy - an under-diagnosed disorder?
 

Author(s): Stephan Rüegg, Monique Lehky Hagen, Ursula Hohl, Ludwig Kappos, Peter Fuhr, Martina Plasilov, Hansjakob Müller, Karl Heinimann

Journal: Swiss Med Wkly. 2005 Oct;135(39-40):574-86.

 

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant muscle disorder, usually of late onset. OPMD is among the few triplet repeat diseases/ polyalanine (poly(A)) expansion diseases for which the function of the mutated gene is quite well established. The disease is characterised ...

Last Updated: 7 Dec 2005

Go To URL
 
 
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
Safety Tolerability and Efficacy Study of Cabaletta to Treat Oculopharyngeal Muscular Dystrophy (OPMD) Patients
 

Status: Recruiting

Condition Summary: Oculopharyngeal Muscular Dystrophy

 

Last Updated: 1 Aug 2014

Go to URL