Living with Hereditary hollow viscus myopathy
A rare inherited condition in which the muscles of the gut and urinary tract don't work well.
Understanding Hereditary hollow viscus myopathy
It causes chronic intestinal pseudo-obstruction, where the gut acts blocked even though nothing is blocking it. It usually shows up after the first decade of life. Features can include a very wide first part of the small intestine (megaduodenum) and a very large bladder (megacystis).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Swollen belly (distention)
- Belly pain and vomiting
- Constipation or diarrhea
- Trouble swallowing
- Very large bladder (megacystis)
- Urine backing up toward the kidneys
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ACTG2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Pull-thru Network
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the ACTG2 gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: familial hollow visceral myopathy; familial visceral myopathy; hereditary hollow visceral myopathy; megaduodenum and/or megacystis
Patient organizations
- Pull-thru NetworkHereditary hollow viscus myopathy · United States
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