Living with Autosomal recessive nonsyndromic hearing loss 1A
An inherited form of hearing loss caused by changes in the GJB2 gene.
Understanding Autosomal recessive nonsyndromic hearing loss 1A
Hearing loss happens when both copies of the GJB2 gene have changes. Other subtypes of recessive deafness are caused by changes in other genes. Some people have inner ear hearing loss, and balance function can be affected.
Signs & symptoms
GARD doesn't list common symptoms. It lists these as less common:
- Hearing loss from the inner ear (sensorineural)
- Balance problems (vestibular changes)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
It is caused by changes in both copies of the GJB2 gene. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: connexin 26 deafness; deafness nonsyndromic, connexin 26 linked; deafness, autosomal recessive 1a; deafness, digenic gjb2/gjb6, autosomal recessive, digenic dominant; deafness, digenic, gjb2/gjb3, autosomal recessive, digenic dominant; dfnb 1 nonsyndromic hearing loss and deafness
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 Autosomal recessive nonsyndromic hearing loss 1A.
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