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Oculopharyngeal muscular dystrophy

Disease definition

Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.

ORPHA:270

  • Synonym(s):
    • OPMD
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Adult, Elderly
  • ICD-10: G71.0
  • OMIM: 164300
  • UMLS: C0270952
  • MeSH: D039141
  • GARD: 7245
  • MedDRA: 10052181

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