Hereditary sensory and autonomic neuropathy type 8

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ORPHA:478664OMIM:616488G60.8
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Overview

Hereditary sensory and autonomic neuropathy type 8 (HSAN8) is a very rare inherited disorder that affects the nervous system — specifically the nerves that carry pain, temperature, and touch signals, as well as the nerves that control automatic body functions like heart rate, blood pressure, and digestion. These are called sensory and autonomic nerves. When these nerves do not work properly, the body cannot feel pain or temperature changes the way it should, which can lead to serious injuries going unnoticed. People with HSAN8 are often unable to feel pain at all — a condition called congenital insensitivity to pain. While this might sound like a benefit, it is actually very dangerous. Without pain as a warning signal, injuries like broken bones, burns, or infections can go undetected and become severe. The autonomic symptoms can include problems with sweating, unstable blood pressure, and digestive issues. HSAN8 is caused by changes (mutations) in the PRDM12 gene. There is currently no cure, and treatment focuses on preventing injuries, managing complications, and supporting quality of life. Close medical monitoring is essential throughout a person's life.

Also known as:

Key symptoms:

Complete inability to feel pain (congenital insensitivity to pain)Reduced or absent ability to feel temperature changesRepeated injuries, fractures, or wounds that go unnoticedJoint damage from repeated unnoticed injuries (Charcot joints)Reduced or absent sweating (anhidrosis)Abnormal or absent reflexesAutonomic problems such as unstable blood pressureDigestive difficultiesRecurrent skin infections or ulcers from unnoticed woundsCorneal damage to the eyes from lack of protective pain sensationIntellectual development is typically normal

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Hereditary sensory and autonomic neuropathy type 8.

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No actively recruiting trials found for Hereditary sensory and autonomic neuropathy type 8 at this time.

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No specialists are currently listed for Hereditary sensory and autonomic neuropathy type 8.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Hereditary sensory and autonomic neuropathy type 8.

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Community

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Latest news about Hereditary sensory and autonomic neuropathy type 8

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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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 safety measures should we put in place at home and school to prevent injuries?,How often should we schedule check-ups with different specialists, and which ones are most important?,Are there any clinical trials or research studies we should know about for HSAN8?,What signs of complications should prompt an emergency room visit?,How can we protect my child's eyes and joints from long-term damage?,Is genetic counseling recommended for other family members, and what are the chances of future children being affected?,Are there patient communities or support groups for families dealing with congenital insensitivity to pain?

Common questions about Hereditary sensory and autonomic neuropathy type 8

What is Hereditary sensory and autonomic neuropathy type 8?

Hereditary sensory and autonomic neuropathy type 8 (HSAN8) is a very rare inherited disorder that affects the nervous system — specifically the nerves that carry pain, temperature, and touch signals, as well as the nerves that control automatic body functions like heart rate, blood pressure, and digestion. These are called sensory and autonomic nerves. When these nerves do not work properly, the body cannot feel pain or temperature changes the way it should, which can lead to serious injuries going unnoticed. People with HSAN8 are often unable to feel pain at all — a condition called congenit

How is Hereditary sensory and autonomic neuropathy type 8 inherited?

Hereditary sensory and autonomic neuropathy type 8 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Hereditary sensory and autonomic neuropathy type 8 typically begin?

Typical onset of Hereditary sensory and autonomic neuropathy type 8 is neonatal. Age of onset can vary across affected individuals.