Overview
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome (also known as ADCA-DN) is an extremely rare inherited neurological condition that affects several parts of the nervous system. The disease is caused by mutations in the DNMT1 gene, which plays an important role in how DNA is maintained in cells. People with this condition typically develop problems with balance and coordination (called cerebellar ataxia), progressive hearing loss (sensorineural deafness), and narcolepsy, which causes overwhelming daytime sleepiness and sudden episodes of muscle weakness triggered by emotions (called cataplexy). Symptoms usually begin in adulthood, often between the ages of 20 and 40, and tend to worsen gradually over time. Some patients may also experience memory problems or other cognitive changes as the disease progresses. Because this condition is so rare, there is currently no cure or disease-modifying treatment available. Management focuses on treating individual symptoms — for example, stimulant medications for narcolepsy, hearing aids for hearing loss, and physical therapy for balance problems. A team of specialists is usually needed to provide the best possible care. Research into this condition is ongoing, and understanding of the disease continues to grow as more cases are identified and studied.
Key symptoms:
Progressive difficulty with balance and coordination (ataxia)Progressive hearing lossExcessive daytime sleepiness (narcolepsy)Sudden muscle weakness triggered by emotions (cataplexy)Unsteady walkingSlurred speechMemory problems or cognitive declineDifficulty with fine motor tasks like writingInvoluntary eye movements (nystagmus)Sensory nerve problems (peripheral neuropathy)Depression or mood changesDisrupted nighttime sleep
Clinical phenotype terms (28)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Autosomal dominant cerebellar ataxia-deafness-narcolepsy 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 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome.
Community
No community posts yet. Be the first to share your experience with Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome.
Start the conversation →Latest news about Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
No recent news articles for Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome.
Follow this condition to be notified when news becomes available.
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 DNMT1 mutation do I have, and does it tell us anything about how the disease might progress?,What medications can help manage my narcolepsy and cataplexy symptoms?,How often should I have my hearing tested, and when should I consider hearing aids or cochlear implants?,Are there any clinical trials or research studies I could participate in?,What should my family members know about genetic testing, since this condition is inherited?,What physical therapy or rehabilitation programs would be most helpful for my balance problems?,Are there any safety precautions I should take regarding driving or working?
Common questions about Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
What is Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome?
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome (also known as ADCA-DN) is an extremely rare inherited neurological condition that affects several parts of the nervous system. The disease is caused by mutations in the DNMT1 gene, which plays an important role in how DNA is maintained in cells. People with this condition typically develop problems with balance and coordination (called cerebellar ataxia), progressive hearing loss (sensorineural deafness), and narcolepsy, which causes overwhelming daytime sleepiness and sudden episodes of muscle weakness triggered by emotions (c
How is Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome inherited?
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome typically begin?
Typical onset of Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome is adult. Age of onset can vary across affected individuals.