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.

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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

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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

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

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.
 

Author(s): Pascale Richard, Capucine Trollet, Tanya Stojkovic, Alix de Becdelievre, Sophie Perie, Jean Pouget, Bruno Eymard,

Journal: Neurology. 2017 Jan;88(4):359-365.

 

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. The genetic cause is an expanded (GCN)n mutation in the PABPN1 gene encoding for the polyadenylate-binding protein nuclear ...

Last Updated: 31 Dec 1969

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Dysphagia-related quality of life in oculopharyngeal muscular dystrophy: Psychometric properties of the SWAL-QOL instrument.
 

Author(s): Sarah Youssof, Carol Romero-Clark, Teddy Warner, Emily Plowman

Journal: Muscle Nerve. 2017 Jul;56(1):28-35.

 

The Swallowing Quality of Life instrument (SWAL-QOL) is a patient-reported outcome measure of swallowing-related quality of life (SR-QoL). Its psychometric properties in oculopharyngeal muscular dystrophy (OPMD) are not known.

Last Updated: 31 Dec 1969

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Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report.
 

Author(s): Marilia Yuri Maeda, Tais Yuri Hashimoto, Isabella Christina Oliveira Neto, Luciano Rodrigues Neves

Journal: Braz J Otorhinolaryngol. ;83(2):235-238.

 

Last Updated: 31 Dec 1969

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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 --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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History Study of Oculopharyngeal Muscular Dystrophy
 

Status: Not yet recruiting

Condition Summary: Oculopharyngeal Muscular Dystrophy

 

Last Updated: 18 May 2017

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Screening in Oculopharyngeal Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Oculopharyngeal Muscular Dystrophy

 

Last Updated: 21 Jun 2018

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