Overview
Hereditary sensory and autonomic neuropathy type 6 (HSAN6) is an extremely rare genetic condition that affects the nerves responsible for sensing pain, temperature, and touch, as well as the nerves that control automatic body functions like breathing, heart rate, and digestion. This condition is also sometimes called HSAN type VI or dysautonomia with sensory neuropathy. It is caused by mutations in the DST gene (also known as DST or dystonin), which provides instructions for making a protein important for nerve cell structure and function. HSAN6 typically presents at birth or in early infancy. Affected babies may have very low muscle tone (floppiness), difficulty feeding, and problems breathing on their own. They often show a reduced or absent ability to feel pain and may have joint contractures (stiff, bent joints). Autonomic problems can include unstable body temperature, episodes of slow or fast heart rate, and difficulty with digestion. Many affected children also experience developmental delays and intellectual disability. Unfortunately, HSAN6 is a severe condition, and there is currently no cure or disease-modifying treatment available. Care is focused on managing symptoms and supporting the child's comfort and quality of life. This may include respiratory support, feeding assistance through a tube, physical therapy, and careful monitoring of autonomic functions. Because the disease is so rare, research is limited, but genetic diagnosis has become more accessible through modern sequencing technologies.
Also known as:
Key symptoms:
Severe low muscle tone (floppiness) from birthInability or reduced ability to feel painInability or reduced ability to feel temperature changesBreathing difficulties requiring supportFeeding difficultiesJoint contractures (stiff, bent joints)Unstable body temperatureAbnormal heart rate (too fast or too slow)Poor or absent sweatingDevelopmental delaysIntellectual disabilityPoor growth and failure to thriveReduced or absent deep tendon reflexesGastrointestinal problems such as constipation or reflux
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventUniversity Hospital, Rouen — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Hereditary sensory and autonomic neuropathy type 6.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Hereditary sensory and autonomic neuropathy type 6 at this time.
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Specialists
View all specialists →No specialists are currently listed for Hereditary sensory and autonomic neuropathy type 6.
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 6.
Community
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Start the conversation →Latest news about Hereditary sensory and autonomic neuropathy type 6
Disease timeline:
New recruiting trial: Evaluation of the Prevalence of BP180 and BP230 Autoantibodies in the Serum of Patients With Pruritus Under Immunotherapy
A new clinical trial is recruiting patients for Hereditary sensory and autonomic neuropathy type 6
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 is the expected course of this disease for my child specifically?,What breathing and feeding support will my child need, and how might this change over time?,How can we best protect my child from injuries they cannot feel?,What therapies (physical, occupational, speech) are recommended and how often?,Are there any clinical trials or research studies we could participate in?,What emergency signs should I watch for, and what should I do if they occur?,Can you help connect us with other families affected by HSAN6 or with support organizations?
Common questions about Hereditary sensory and autonomic neuropathy type 6
What is Hereditary sensory and autonomic neuropathy type 6?
Hereditary sensory and autonomic neuropathy type 6 (HSAN6) is an extremely rare genetic condition that affects the nerves responsible for sensing pain, temperature, and touch, as well as the nerves that control automatic body functions like breathing, heart rate, and digestion. This condition is also sometimes called HSAN type VI or dysautonomia with sensory neuropathy. It is caused by mutations in the DST gene (also known as DST or dystonin), which provides instructions for making a protein important for nerve cell structure and function. HSAN6 typically presents at birth or in early infancy
How is Hereditary sensory and autonomic neuropathy type 6 inherited?
Hereditary sensory and autonomic neuropathy type 6 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 6 typically begin?
Typical onset of Hereditary sensory and autonomic neuropathy type 6 is neonatal. Age of onset can vary across affected individuals.