Overview
Hereditary sensory neuropathy-deafness-dementia syndrome (also known as hereditary sensory and autonomic neuropathy with dementia and hearing loss) is an extremely rare genetic condition that affects the nervous system in multiple ways. It is caused by mutations in the DNMT1 gene, which plays an important role in how your body manages DNA. The disease typically begins in adulthood and involves three main problems: sensory neuropathy (damage to the nerves that sense touch, pain, and temperature), sensorineural hearing loss (deafness caused by inner ear or nerve damage), and progressive dementia (a gradual decline in memory, thinking, and reasoning abilities). The sensory neuropathy usually starts in the feet and hands, causing numbness, tingling, or loss of the ability to feel pain. Because people cannot feel injuries, they may develop wounds or ulcers on their feet without realizing it. Hearing loss tends to develop gradually and can become severe over time. The dementia component typically appears later and worsens progressively, affecting a person's ability to think clearly, remember things, and eventually care for themselves. There is currently no cure for this condition. Treatment focuses on managing symptoms: hearing aids or cochlear implants for hearing loss, careful foot care to prevent injuries, pain management for neuropathy, and supportive care for cognitive decline. Research is ongoing to better understand the disease and develop targeted therapies.
Key symptoms:
Numbness or loss of feeling in the hands and feetHearing loss that gets worse over timeMemory problems and cognitive decline (dementia)Tingling or burning sensations in the limbsFoot ulcers or wounds that go unnoticed due to lack of pain sensationDifficulty with balance and walkingLoss of ability to sense temperature changesPersonality or behavioral changesDifficulty with daily tasks as dementia progressesMuscle weakness in the lower legsSleep disturbancesNarcolepsy-like episodes in some cases
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 Hereditary sensory neuropathy-deafness-dementia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hereditary sensory neuropathy-deafness-dementia 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 Hereditary sensory neuropathy-deafness-dementia 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 stage is the disease at currently, and what symptoms should I expect next?,How often should I have hearing tests and neurological evaluations?,What can I do to protect my feet and prevent injuries from sensory loss?,Are there any medications that might help slow the cognitive decline?,Should my family members be tested for the DNMT1 gene mutation?,What support services are available for managing daily life as the disease progresses?,Are there any clinical trials or research studies I could participate in?
Common questions about Hereditary sensory neuropathy-deafness-dementia syndrome
What is Hereditary sensory neuropathy-deafness-dementia syndrome?
Hereditary sensory neuropathy-deafness-dementia syndrome (also known as hereditary sensory and autonomic neuropathy with dementia and hearing loss) is an extremely rare genetic condition that affects the nervous system in multiple ways. It is caused by mutations in the DNMT1 gene, which plays an important role in how your body manages DNA. The disease typically begins in adulthood and involves three main problems: sensory neuropathy (damage to the nerves that sense touch, pain, and temperature), sensorineural hearing loss (deafness caused by inner ear or nerve damage), and progressive dementia
How is Hereditary sensory neuropathy-deafness-dementia syndrome inherited?
Hereditary sensory neuropathy-deafness-dementia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hereditary sensory neuropathy-deafness-dementia syndrome typically begin?
Typical onset of Hereditary sensory neuropathy-deafness-dementia syndrome is adult. Age of onset can vary across affected individuals.