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Familial visceral myopathy

Disease definition

Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

ORPHA:2604

  • Synonym(s):
    • Familial hollow visceral myopathy
    • Hereditary hollow visceral myopathy
    • Megaduodenum and/or megacystis
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: K56.0
  • OMIM: 155310
  • UMLS: C0266833  C1835084
  • MeSH: -
  • GARD: 3443
  • MedDRA: -

Detailed information

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