Overview
Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is an extremely rare genetic condition that affects the nerves responsible for sensing pain and controlling automatic body functions like sweating and blood pressure. It is caused by mutations in the SCN11A gene, which provides instructions for making a sodium channel protein important for nerve signaling, particularly in pain-sensing nerves. People with HSAN7 typically have a greatly reduced ability to feel pain from birth or early infancy. This inability to sense pain can lead to repeated injuries, burns, and bone fractures that go unnoticed. Affected individuals may also develop joint problems due to unrecognized damage over time. Some patients experience slow wound healing, skin ulcers, and self-inflicted injuries because they cannot feel when something is hurting them. Autonomic features such as reduced sweating and problems with bowel function (like constipation or diarrhea) may also occur. There is currently no cure for HSAN7. Treatment focuses on preventing injuries, managing wounds, and monitoring for complications. A multidisciplinary care team is essential to help patients and families navigate the challenges of living without normal pain sensation. Early diagnosis and protective strategies can significantly improve quality of life and reduce the risk of serious complications.
Also known as:
Key symptoms:
Inability or reduced ability to feel pain from birthFrequent unexplained injuries, burns, or bruisesBone fractures that go unnoticedSlow-healing wounds or skin ulcersSelf-injurious behavior such as biting fingers or lipsJoint damage and deformity from repeated unnoticed injuriesReduced or absent sweatingGastrointestinal problems such as constipation or diarrheaMuscle weaknessReduced sense of temperatureInfections from unnoticed wounds
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Hereditary sensory and autonomic neuropathy type 7.
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Specialists
View all specialists →No specialists are currently listed for Hereditary sensory and autonomic neuropathy type 7.
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 and autonomic neuropathy type 7.
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.How can we best protect our child from injuries at home and at school?,What signs of infection should we watch for, and when should we seek emergency care?,Are there any clinical trials or new treatments being studied for HSAN7?,How often should we schedule follow-up visits with each specialist?,What should we tell our child's school about their condition?,Could other family members be affected, and should they be tested?,What resources or support groups are available for families dealing with pain insensitivity?
Common questions about Hereditary sensory and autonomic neuropathy type 7
What is Hereditary sensory and autonomic neuropathy type 7?
Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is an extremely rare genetic condition that affects the nerves responsible for sensing pain and controlling automatic body functions like sweating and blood pressure. It is caused by mutations in the SCN11A gene, which provides instructions for making a sodium channel protein important for nerve signaling, particularly in pain-sensing nerves. People with HSAN7 typically have a greatly reduced ability to feel pain from birth or early infancy. This inability to sense pain can lead to repeated injuries, burns, and bone fractures that go
How is Hereditary sensory and autonomic neuropathy type 7 inherited?
Hereditary sensory and autonomic neuropathy type 7 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hereditary sensory and autonomic neuropathy type 7 typically begin?
Typical onset of Hereditary sensory and autonomic neuropathy type 7 is neonatal. Age of onset can vary across affected individuals.