Overview
Ataxia-deafness-intellectual disability syndrome is an extremely rare genetic condition that affects the nervous system in multiple ways. The three main features of this syndrome are ataxia (problems with balance and coordination), hearing loss (deafness or partial hearing impairment), and intellectual disability. These symptoms typically appear together and can vary in severity from person to person. The ataxia component means that affected individuals have difficulty coordinating their movements, which can affect walking, fine motor skills like writing or buttoning clothes, and overall balance. The hearing loss can range from mild to profound and may be present from birth or develop during early childhood. Intellectual disability can also range from mild to severe, affecting learning ability, problem-solving, and adaptive behavior. Because this condition is so rare, there is limited information about its full range of symptoms and outcomes. There is currently no cure for this syndrome. Treatment focuses on managing individual symptoms through supportive therapies such as physical therapy for coordination problems, hearing aids or cochlear implants for hearing loss, and special education services for intellectual disability. A team of specialists working together provides the best care approach for affected individuals.
Key symptoms:
Poor balance and coordination (ataxia)Hearing loss or deafnessIntellectual disabilityDifficulty walkingDelayed developmental milestonesSpeech and language delaysDifficulty with fine motor skillsLearning difficultiesUnsteady gaitMuscle tone abnormalities
Clinical phenotype terms (17)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Ataxia-deafness-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Ataxia-deafness-intellectual disability syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Ataxia-deafness-intellectual disability syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific tests can confirm this diagnosis, and should we pursue genetic testing?,How severe is my child's hearing loss, and what are the best options for hearing support?,What therapies do you recommend to help with balance and coordination?,Are there any signs of progression we should watch for over time?,What educational supports and accommodations should we request at school?,Is genetic counseling recommended for our family regarding future pregnancies?,Are there any clinical trials or research studies we could participate in?
Common questions about Ataxia-deafness-intellectual disability syndrome
What is Ataxia-deafness-intellectual disability syndrome?
Ataxia-deafness-intellectual disability syndrome is an extremely rare genetic condition that affects the nervous system in multiple ways. The three main features of this syndrome are ataxia (problems with balance and coordination), hearing loss (deafness or partial hearing impairment), and intellectual disability. These symptoms typically appear together and can vary in severity from person to person. The ataxia component means that affected individuals have difficulty coordinating their movements, which can affect walking, fine motor skills like writing or buttoning clothes, and overall bala
How is Ataxia-deafness-intellectual disability syndrome inherited?
Ataxia-deafness-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ataxia-deafness-intellectual disability syndrome typically begin?
Typical onset of Ataxia-deafness-intellectual disability syndrome is childhood. Age of onset can vary across affected individuals.