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GENATLAS PHENOTYPE
last update : 30-03-2022
Symbol OPDM3
Location 1q21.2
Name oculopharyngodistal myopathy 3
Corresponding gene NOTCH2NLC
Main clinical features
  • neuromyodegenerative disease characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties, and onset of the disorder is usually in adulthood.
  • additional features include hyporeflexia, proximal muscle weakness, neck muscle weakness, dysarthria, dysphagia, and ptosis; also frequent pigmentary retinopathy, peripheral neuropathy, or hearing loss
  • muscle biopsy show intranuclear inclusions and rimmed vacuoles
  • Genetic determination autosomal dominant
    Function/system disorder eye
    neuromuscular
    Type disease
    Remark(s) . GGC repeat expansions in the NOTCH2NLC gene in 16.7p100 of a cohort of Chinese OPDM patients (PMID: 34435201))