Hereditary sensory and autonomic neuropathy type 7

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ORPHA:391397OMIM:615548G60.8
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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

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

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 7.

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No actively recruiting trials found for Hereditary sensory and autonomic neuropathy type 7 at this time.

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No specialists are currently listed for Hereditary sensory and autonomic neuropathy type 7.

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 7.

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Community

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Latest news about Hereditary sensory and autonomic neuropathy type 7

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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.