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Oculopharyngeal muscular dystrophy

Summary

Excerpted from the GeneReview: Oculopharyngeal Muscular Dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and pharynx, respectively. For the vast majority of individuals with typical OPMD, the mean age of onset of ptosis is usually 48 years and of dysphagia 50 years; in 5%-10% of individuals with severe OPMD, onset of ptosis and dysphagia occur before age 45 years and is associated with lower limb girdle weakness starting around age 60 years. Swallowing difficulties, which determine prognosis, increase the risk for potentially life-threatening aspiration pneumonia and poor nutrition. Other manifestations as the disease progresses can include limitation of upward gaze, tongue atrophy and weakness, chewing difficulties, wet voice, facial muscle weakness, axial muscle weakness, and proximal limb girdle weakness predominantly in lower limbs. Some individuals with severe involvement will eventually need a wheelchair. Neuropsychological tests have shown altered scores in executive functions in some.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Capucine Trollet
Alexis Boulinguiez
Fanny Roth
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Available tests

35 tests are in the database for this condition.

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Clinical tests (35 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: OPMD, PAB2, PABII, PABP-2, PABP2, PABPN1
    Summary: poly(A) binding protein nuclear 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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