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Start free with EleplanFamilial visceral myopathy
ORPHA:2604Disease
Also called Familial hollow visceral myopathy · Hereditary hollow visceral myopathy · Megaduodenum and/or megacystis
What it is
Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that may cause 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.
Key facts
- Age of onset
- All ages
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Signs and symptoms
Sometimes5–29%
18- Abdominal situs inversus
- Abnormal cardiovascular system morphology
- Aganglionic megacolon
- Anonychia
- Anteverted nares
- Arachnodactyly
- Broad forehead
- Camptodactyly of finger
and 10 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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