Living with Autosomal dominant cerebellar ataxia, deafness and narcolepsy
A nervous system condition that starts in adulthood with balance problems, hearing loss, and excessive daytime sleepiness.
Understanding Autosomal dominant cerebellar ataxia, deafness and narcolepsy
People have difficulty coordinating movements (ataxia), mild to moderate hearing loss from the inner ear, and excessive daytime sleepiness (narcolepsy). Narcolepsy is often paired with cataplexy, a sudden brief loss of muscle tone with strong emotion. Over time there can be memory and thinking decline, vision nerve damage, cataracts, nerve pain or numbness, and mood changes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Hearing loss from the inner ear
- Excessive daytime sleepiness (narcolepsy)
- Sudden loss of muscle tone with emotion (cataplexy)
- Optic nerve damage
- Decline in thinking skills (dementia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in DNMT1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with HSAN1E Society and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the DNMT1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: adca-dn syndrome; autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome; autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome
Patient organizations
- HSAN1E SocietyAutosomal dominant cerebellar ataxia, deafness and narcolepsy · United States
- Narcolepsy Network, Inc.Autosomal dominant cerebellar ataxia, deafness and narcolepsy · United States
- Project SleepAutosomal dominant cerebellar ataxia, deafness and narcolepsy · United States
- Wake Up NarcolepsyAutosomal dominant cerebellar ataxia, deafness and narcolepsy · United States
- National Ataxia FoundationAtaxia · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant cerebellar ataxia, deafness and narcolepsy.
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