Living with Ataxia - deafness - intellectual disability syndrome
A rare genetic syndrome with developmental delay, balance and coordination problems, and hearing loss.
Understanding Ataxia - deafness - intellectual disability syndrome
Ataxia starts in infancy or childhood and slowly worsens. People also have intellectual disability and hearing loss in both ears from the inner ear (sensorineural). Other features vary and can include nerve disease, weak face muscles, wasting of the leg muscles, and tight heels. GARD notes there have been no further descriptions in the medical literature since 1993.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Hearing loss (sensorineural)
- Intellectual disability
- Low muscle tone and muscle wasting
- Rapid eye movements (nystagmus)
- Curved spine (scoliosis)
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 brain and nervous system specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation
- 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 National Ataxia Foundation
- 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 (also called variants) cause this syndrome. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: adr syndrome; ataxia-deafness-intellectual disability syndrome; ataxia-deafness-retardation syndrome; ataxia-hearing loss-intellectual disability syndrome; reardon-baraitser syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
Broader rare-disease groups
- 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 Ataxia - deafness - intellectual disability syndrome.
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