Overview
Progressive autosomal recessive ataxia-deafness syndrome is an extremely rare inherited neurological condition that affects both movement coordination and hearing. The disease is caused by changes in genes that are inherited in an autosomal recessive pattern, meaning a child must receive a faulty copy of the gene from both parents to develop the condition. The hallmark features of this syndrome are progressive cerebellar ataxia and sensorineural hearing loss. Cerebellar ataxia means that the part of the brain responsible for coordinating movement (the cerebellum) gradually loses its ability to function properly. This leads to increasing difficulty with balance, walking, and fine motor tasks like writing or buttoning clothes. The hearing loss affects the inner ear or the nerve pathways from the ear to the brain, and it tends to worsen over time. Because this condition is so rare, there is currently no cure or disease-modifying treatment available. Management focuses on supportive care, including physical therapy to help maintain mobility and balance, hearing aids or cochlear implants to address hearing loss, and speech therapy if needed. Occupational therapy can also help patients adapt to daily challenges. The progressive nature of the disease means that symptoms tend to worsen over time, and ongoing monitoring by a team of specialists is important to adjust care as the disease advances.
Also known as:
Key symptoms:
Progressive difficulty with balance and coordination (ataxia)Hearing loss that worsens over timeUnsteady walking or gait problemsDifficulty with fine motor tasks like writingSlurred or unclear speechInvoluntary eye movements (nystagmus)Tremor or shaking of the handsDifficulty swallowing in advanced stagesMuscle weaknessFatigue
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
FDA & Trial Timeline
1 eventOrnidyl: FDA approved
Treatment of Trypanosoma brucei gambiense infection (sleeping sickness).
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableOrnidyl
Clinical Trials
View all trials with filters →No actively recruiting trials found for Progressive autosomal recessive ataxia-deafness syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Progressive autosomal recessive 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 Progressive autosomal recessive 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
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 genetic test should we pursue to confirm the diagnosis?,How quickly is this condition likely to progress in my case or my child's case?,What therapies are recommended right now to maintain function?,When should we consider hearing aids or cochlear implants?,Are there any clinical trials or research studies we could participate in?,What home modifications should we make to ensure safety?,How often should we schedule follow-up appointments with the neurologist and audiologist?
Common questions about Progressive autosomal recessive ataxia-deafness syndrome
What is Progressive autosomal recessive ataxia-deafness syndrome?
Progressive autosomal recessive ataxia-deafness syndrome is an extremely rare inherited neurological condition that affects both movement coordination and hearing. The disease is caused by changes in genes that are inherited in an autosomal recessive pattern, meaning a child must receive a faulty copy of the gene from both parents to develop the condition. The hallmark features of this syndrome are progressive cerebellar ataxia and sensorineural hearing loss. Cerebellar ataxia means that the part of the brain responsible for coordinating movement (the cerebellum) gradually loses its ability t
How is Progressive autosomal recessive ataxia-deafness syndrome inherited?
Progressive autosomal recessive ataxia-deafness syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
What treatment and support options exist for Progressive autosomal recessive ataxia-deafness syndrome?
1 patient support program are currently tracked on UniteRare for Progressive autosomal recessive ataxia-deafness syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.