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GTR Home > Conditions/Phenotypes > Oculopharyngodistal myopathy 3

Oculopharyngodistal myopathy 3

Summary

Oculopharyngodistal myopathy-3 (OPDM3) is a neuromyodegenerative disease characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties. The onset of the disorder is usually in adulthood, although childhood onset has rarely been reported. Additional features include hyporeflexia, proximal muscle weakness, neck muscle weakness, dysarthria, dysphagia, and ptosis. Some patients may develop pigmentary retinopathy, peripheral neuropathy, or hearing loss. Cognition is usually not affected, but there may be deficits or psychiatric manifestations. Brain imaging tends to show a leukoencephalopathy, often with a characteristic linear signal along the corticomedullary junction on brain imaging. Skin and muscle biopsy show intranuclear inclusions and rimmed vacuoles. Many of the clinical features are reminiscent of NIID, suggesting that these disorders likely fall within a broad phenotypic spectrum of diseases with neuromyodegenerative features associated with abnormal repeat expansions in this gene (summary by Ogasawara et al., 2020 and Yu et al., 2021). For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ETM6, N2N, NIID, NOTCH2NL, NOTCH2NLA, OPDM3, NOTCH2NLC
    Summary: notch 2 N-terminal like C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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