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Oculopharyngodistal myopathy

Disease definition

A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.

ORPHA:98897

Classification level: Disorder
  • Synonym(s):
    • OPDM
    • Oculopharyngeal distal myopathy
  • Prevalence: -
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: -
  • ICD-10: G71.0
  • OMIM: 164310  618940
  • UMLS: C1834014
  • MeSH: -
  • GARD: 12592
  • MedDRA: -
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