Living with Deafness-small bowel diverticulosis-neuropathy syndrome
A rare nervous system condition causing progressive hearing loss, nerve problems, and digestive problems.
Understanding Deafness-small bowel diverticulosis-neuropathy syndrome
It causes hearing loss and loss of feeling from nerve problems that get worse over time. Digestive problems include slowed stomach movement, small pouches and ulcers in the small bowel, and wasting. It may also cause trouble speaking and drooping eyelids. GARD notes no further descriptions since 1985.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from inner ear or nerve changes
- Chronic diarrhea
- Poor absorption of nutrients (malabsorption)
- Fat in stool (steatorrhea)
- Drooping upper eyelid (ptosis)
- Wasting (cachexia)
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 ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); 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 rare disease patient organizations for support
- 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 says changes in genes cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: deafness, small bowel diverticulosis, neuropathy syndrome; groll hirschowitz syndrome; groll-hirschowitz syndrome; hearing loss-small bowel diverticulosis-neuropathy syndrome; nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Deafness-small bowel diverticulosis-neuropathy syndrome.
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