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Muscular Dystrophy, Oculopharyngeal

Known as: Oculopharyngeal Muscular Dystrophies, Oculopharyngeal Muscular Dystrophy, Progressive Muscular Dystrophy, Oculopharyngeal Type 
An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids… 
National Institutes of Health

Related topics

Related topics

16 relations
Autosomal dominant inheritanceConnective and Soft TissueDeglutition DisordersDysarthria

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
Clinical Characterization and Blepharoptosis Surgery Outcomes in Hispanic New Mexicans With Oculopharyngeal Muscular Dystrophy
Purpose: To clinically characterize blepharoptosis in Hispanic New Mexicans with oculopharyngeal muscular dystrophy and examine… 
2006
2006
Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is due to short elongations of a polyalanine tract in the poly(A) binding protein… 
2006
2006
Ptosis aggravates dysphagia in oculopharyngeal muscular dystrophy
Background: Ptosis and dysphagia are important features in oculopharyngeal muscular dystrophy (OPMD). Objective: Retroflexion of… 
2004
2004
Manometric characteristics of the pharynx, upper esophageal sphincter, esophagus, and lower esophageal sphincter in patients with oculopharyngeal muscular dystrophy
Improved techniques in esophageal manometry have made this test an attractive option for investigating pharyngeal or esophageal… 
2004
2004
Obstructive sleep apnea syndrome complicating oculopharyngeal muscular dystrophy.
We report a 75-year-old Spanish-American woman who received a diagnosis of oculopharyngeal muscular dystrophy after presenting… 
2003
2003
[Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion].
We reported a 52-year-old woman with oculopharyngeal muscular dystrophy (OPMD) harboring expanded (GCG) 13 mutation of the poly… 
1997
1997
Gradual Onset of Dysphagia: A Study of Patients with Oculopharyngeal Muscular Dystrophy
Abstract. This study describes five patients with slowly developing dysphagia secondary to oculopharyngeal muscular dystrophy… 
Review
1995
Review
1995
Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders
Review
1990
Review
1990
[Oculopharyngeal muscular dystrophy. A census of French families and genealogic study].
The first results of a collaborative study aimed at collecting all French families affected by oculopharyngeal muscular dystrophy… 
1982
1982
Oculopharyngeal muscular dystrophy and distal myopathy. Intrafamilial difference in the onset and distribution of muscular involvement.
A family is reported which included a patient with a variant form of oculopharyngeal muscular dystrophy. The patient's son… 
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