Overview
Olivopontocerebellar atrophy-deafness syndrome (also known as OPCA with deafness or Olivopontocerebellar atrophy with sensorineural deafness) is an extremely rare inherited neurological condition that affects the brain and hearing. In this disease, certain parts of the brain — specifically the olivary nuclei, the pons, and the cerebellum — gradually shrink and lose function. These brain regions are responsible for coordinating movement, balance, and other important functions. As a result, affected individuals develop progressive problems with coordination (ataxia), balance difficulties, and hearing loss due to damage to the nerves that carry sound signals from the ear to the brain (sensorineural deafness). Symptoms typically include difficulty walking and maintaining balance, slurred speech, involuntary eye movements, and progressive hearing loss. The condition tends to worsen over time as the brain structures continue to deteriorate. Some individuals may also experience difficulty swallowing and changes in muscle tone. There is currently no cure for this condition. Treatment focuses on managing symptoms and maintaining quality of life. This may include physical therapy to help with balance and coordination, hearing aids or cochlear implants for hearing loss, speech therapy, and occupational therapy. A team of specialists is usually needed to provide comprehensive care.
Also known as:
Key symptoms:
Progressive loss of coordination (ataxia)Difficulty walking and balance problemsHearing loss that worsens over timeSlurred or unclear speechInvoluntary eye movements (nystagmus)Difficulty swallowingMuscle stiffness or spasticityTremorsUnsteady gaitLoss of fine motor skillsDizzinessCognitive changes in some cases
Clinical phenotype terms (14)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Olivopontocerebellar atrophy-deafness syndrome.
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Specialists
View all specialists →No specialists are currently listed for Olivopontocerebellar atrophy-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 Olivopontocerebellar atrophy-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
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.How quickly is this condition likely to progress in my case or my child's case?,What therapies are most important to start right away?,Should we pursue genetic testing, and what can it tell us about our family's risk?,What hearing interventions would be most helpful at this stage?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to seek urgent medical attention?,How can we best plan for future mobility and communication needs?
Common questions about Olivopontocerebellar atrophy-deafness syndrome
What is Olivopontocerebellar atrophy-deafness syndrome?
Olivopontocerebellar atrophy-deafness syndrome (also known as OPCA with deafness or Olivopontocerebellar atrophy with sensorineural deafness) is an extremely rare inherited neurological condition that affects the brain and hearing. In this disease, certain parts of the brain — specifically the olivary nuclei, the pons, and the cerebellum — gradually shrink and lose function. These brain regions are responsible for coordinating movement, balance, and other important functions. As a result, affected individuals develop progressive problems with coordination (ataxia), balance difficulties, and he
How is Olivopontocerebellar atrophy-deafness syndrome inherited?
Olivopontocerebellar atrophy-deafness syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.