Living with Autosomal dominant nonsyndromic hearing loss 2A
An inherited hearing loss that starts with high-pitched sounds and can spread to all pitches.
Understanding Autosomal dominant nonsyndromic hearing loss 2A
High-pitched sounds are harder to hear first. Over time, hearing loss spreads to all pitches. It is often found during routine hearing checks in children, but it is likely present from birth. Most people with DFNA2A need hearing aids between the ages of 10 and 40.
Signs & symptoms
GARD describes these hearing features:
- Trouble hearing high-pitched sounds
- Hearing loss that spreads to all pitches over time
- Moderate loss of low-pitched sounds in older people
- Severe loss of high-pitched sounds in older people
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
DFNA2A is caused by a change in the KCNQ4 gene. It is autosomal dominant, so a single changed copy of the gene is enough to cause it.
Also known as: autosomal dominant nonsyndromic deafness 2a; deafness, autosomal dominant 2a; dfna 2 nonsyndromic hearing loss; dfna2 nonsyndromic hearing loss
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 dominant nonsyndromic hearing loss 2A.
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