Overview
X-linked hereditary sensory and autonomic neuropathy with deafness is an extremely rare genetic condition that affects the nerves responsible for sensation and automatic body functions, along with causing hearing loss. This disease belongs to a group of disorders called hereditary sensory and autonomic neuropathies (HSANs), which damage the nerves that help you feel pain, temperature, and touch, as well as nerves that control involuntary functions like sweating, blood pressure, and digestion. Because this form is X-linked, it primarily affects males, while females may be carriers with milder or no symptoms. People with this condition typically experience a reduced ability to feel pain and temperature changes, which can lead to unnoticed injuries, burns, or infections. Hearing loss (sensorineural deafness) is a hallmark feature that can range from moderate to severe. Some individuals may also have problems with sweating, digestive function, or other autonomic processes. There is currently no cure for this condition. Treatment focuses on managing symptoms, preventing complications from reduced sensation (such as wound care and injury prevention), addressing hearing loss with hearing aids or cochlear implants, and providing supportive therapies. A multidisciplinary team of specialists is usually needed to provide comprehensive care.
Also known as:
Key symptoms:
Hearing loss or deafnessReduced ability to feel painReduced ability to feel temperature changesNumbness or tingling in hands and feetFrequent unnoticed injuries or burnsSlow-healing wounds or ulcers on the feet or handsReduced or absent sweatingMuscle weakness in the limbsLoss of reflexesDigestive problemsDifficulty with balanceRecurrent infections due to unnoticed wounds
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for X-linked hereditary sensory and autonomic neuropathy with deafness.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for X-linked hereditary sensory and autonomic neuropathy with deafness at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for X-linked hereditary sensory and autonomic neuropathy with deafness.
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 X-linked hereditary sensory and autonomic neuropathy with deafness.
Community
No community posts yet. Be the first to share your experience with X-linked hereditary sensory and autonomic neuropathy with deafness.
Start the conversation →Latest news about X-linked hereditary sensory and autonomic neuropathy with deafness
No recent news articles for X-linked hereditary sensory and autonomic neuropathy with deafness.
Follow this condition to be notified when news becomes available.
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 specific genetic testing should be done to confirm the diagnosis?,How can we best protect against injuries and burns given the reduced ability to feel pain?,What are the options for managing hearing loss — hearing aids, cochlear implants, or other devices?,How often should we schedule follow-up visits and with which specialists?,Are there any clinical trials or emerging therapies we should know about?,Should female family members be tested as carriers?,What resources or support services are available for our family?
Common questions about X-linked hereditary sensory and autonomic neuropathy with deafness
What is X-linked hereditary sensory and autonomic neuropathy with deafness?
X-linked hereditary sensory and autonomic neuropathy with deafness is an extremely rare genetic condition that affects the nerves responsible for sensation and automatic body functions, along with causing hearing loss. This disease belongs to a group of disorders called hereditary sensory and autonomic neuropathies (HSANs), which damage the nerves that help you feel pain, temperature, and touch, as well as nerves that control involuntary functions like sweating, blood pressure, and digestion. Because this form is X-linked, it primarily affects males, while females may be carriers with milder
How is X-linked hereditary sensory and autonomic neuropathy with deafness inherited?
X-linked hereditary sensory and autonomic neuropathy with deafness follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.