Living with Visceral neuropathy, familial, 1, autosomal recessive
A condition in which nerves of the gut did not develop properly, causing a bowel blockage-like problem without a physical blockage.
Understanding Visceral neuropathy, familial, 1, autosomal recessive
The result is a bowel that acts as if it is blocked. GARD says signs can begin at any time in life. Listed features include poor absorption of food, repeated infections, and some heart and diaphragm differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bowel that acts blocked (pseudo-obstruction)
- Trouble absorbing food (malabsorption)
- Repeated infections
- Heart wall opening (septal defect)
- Open blood vessel near the heart (patent ductus arteriosus)
- Hole in the diaphragm (hernia)
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 ERBB3 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
GARD lists the ERBB3 gene. The condition's name says it is autosomal recessive, meaning a child inherits a changed copy from each parent.
Also known as: neuronal intestinal pseudoobstruction; vscn1
Patient organizations
- Pull-thru NetworkVisceral neuropathy, familial, 1, autosomal recessive · United States
You are more than your diagnosis
Perspectives from people navigating life with Visceral neuropathy, familial, 1, autosomal recessive.
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