Overview
Hereditary sensory and autonomic neuropathy type 1 (HSAN1), also known as hereditary sensory neuropathy type 1 (HSN1) or Charcot-Marie-Tooth disease type 2B (in some older literature), is a rare inherited nerve disease that mainly affects the nerves responsible for feeling sensations and controlling automatic body functions. The disease slowly damages the peripheral nerves — the nerves that run outside the brain and spinal cord to your limbs and organs. Over time, this damage causes people to lose the ability to feel pain, heat, and touch, especially in the feet and lower legs. Because people cannot feel injuries, small wounds can go unnoticed and become serious infections, sometimes leading to amputations. The disease usually starts in early to mid-adulthood, often between the ages of 15 and 35. Early signs include shooting or burning pain in the legs, followed by a gradual loss of sensation. As the disease progresses, muscle weakness and wasting in the feet and lower legs can develop. Some people also experience problems with sweating, hearing loss, or stomach and bowel issues due to damage to the autonomic nerves that control these functions. There is currently no cure for HSAN1. Treatment focuses on managing symptoms, preventing injuries, and treating complications like foot ulcers and infections. A low-serine diet combined with L-serine supplementation has shown promise in some patients and is being studied in clinical trials. Regular monitoring by a team of specialists is essential to slow complications and maintain quality of life.
Also known as:
Key symptoms:
Loss of feeling (numbness) in the feet and lower legsShooting, stabbing, or burning pain in the legs, especially early in the diseaseInability to feel pain or temperature in the feetFoot ulcers and sores that do not heal wellRepeated infections in the feet or legsMuscle weakness in the feet and lower legsMuscle wasting (shrinking) in the feet and lower legsDifficulty walking or foot dropReduced or absent sweating in affected areasHearing loss in some peopleStomach and bowel problems in some peopleBone and joint damage in the feet due to unnoticed injuries
Clinical phenotype terms (29)— hover any for plain English
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 and autonomic neuropathy type 1.
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Rare Disease Specialist
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 1.
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Questions for your doctor
Bring these to your next appointment
- Q1.Which gene mutation do I have, and what does that mean for how my disease will progress?,Should my children or siblings be tested for this condition?,Is L-serine supplementation or a low-serine diet right for me, and are there clinical trials I can join?,What is the best way to protect my feet and prevent ulcers or infections?,What pain management options are available for my nerve pain?,How often should I have nerve conduction studies or other tests to monitor my condition?,Are there any specialists or centers with specific expertise in HSAN1 that you would recommend?
Common questions about Hereditary sensory and autonomic neuropathy type 1
What is Hereditary sensory and autonomic neuropathy type 1?
Hereditary sensory and autonomic neuropathy type 1 (HSAN1), also known as hereditary sensory neuropathy type 1 (HSN1) or Charcot-Marie-Tooth disease type 2B (in some older literature), is a rare inherited nerve disease that mainly affects the nerves responsible for feeling sensations and controlling automatic body functions. The disease slowly damages the peripheral nerves — the nerves that run outside the brain and spinal cord to your limbs and organs. Over time, this damage causes people to lose the ability to feel pain, heat, and touch, especially in the feet and lower legs. Because people
How is Hereditary sensory and autonomic neuropathy type 1 inherited?
Hereditary sensory and autonomic neuropathy type 1 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 1 typically begin?
Typical onset of Hereditary sensory and autonomic neuropathy type 1 is adult. Age of onset can vary across affected individuals.
Which specialists treat Hereditary sensory and autonomic neuropathy type 1?
4 specialists and care centers treating Hereditary sensory and autonomic neuropathy type 1 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.