Overview
Cataract-ataxia-deafness syndrome is an extremely rare inherited condition that affects three main parts of the body: the eyes, the nervous system, and the ears. People with this syndrome develop cataracts (clouding of the lens in the eye that causes blurry vision), ataxia (problems with balance and coordination due to damage to the part of the brain called the cerebellum), and sensorineural deafness (hearing loss caused by problems with the inner ear or the nerve that carries sound signals to the brain). The condition is sometimes also referred to as Schmidley syndrome or spinocerebellar ataxia with cataracts and deafness. Symptoms typically appear during childhood or young adulthood and tend to get worse over time. The ataxia can make walking difficult and affect fine motor skills like writing or buttoning clothes. The cataracts may develop gradually and can significantly impair vision if not treated. Hearing loss may also progress over time. Because this syndrome is so rare, there is no specific cure or disease-modifying treatment available. Management focuses on treating each symptom individually. Cataracts can often be removed surgically, hearing aids or cochlear implants may help with hearing loss, and physical therapy and assistive devices can help manage balance and coordination problems. A team of specialists working together is important for the best possible care.
Also known as:
Key symptoms:
Cloudy vision due to cataractsProblems with balance and coordination (ataxia)Hearing loss or deafnessUnsteady walkingDifficulty with fine motor tasksSlurred speechInvoluntary eye movements (nystagmus)Progressive worsening of movement controlMuscle weaknessDifficulty with hand-eye coordination
Clinical phenotype terms (13)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Cataract-ataxia-deafness syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cataract-ataxia-deafness 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 Cataract-ataxia-deafness 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
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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.How quickly is this condition likely to progress in my case or my child's case?,When should cataract surgery be considered, and what are the expected outcomes?,What type of hearing aids or devices would be most helpful right now?,What physical therapy exercises can help maintain balance and coordination?,Are there any genetic tests that could identify the exact cause and help other family members?,What school or workplace accommodations should we request?,Are there any clinical trials or research studies we could participate in?
Common questions about Cataract-ataxia-deafness syndrome
What is Cataract-ataxia-deafness syndrome?
Cataract-ataxia-deafness syndrome is an extremely rare inherited condition that affects three main parts of the body: the eyes, the nervous system, and the ears. People with this syndrome develop cataracts (clouding of the lens in the eye that causes blurry vision), ataxia (problems with balance and coordination due to damage to the part of the brain called the cerebellum), and sensorineural deafness (hearing loss caused by problems with the inner ear or the nerve that carries sound signals to the brain). The condition is sometimes also referred to as Schmidley syndrome or spinocerebellar atax
How is Cataract-ataxia-deafness syndrome inherited?
Cataract-ataxia-deafness syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.