Overview
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation (also called HSAN type 9 or TECPR2-related hereditary sensory and autonomic neuropathy) is a rare genetic condition that affects the nervous system, particularly the nerves that control sensation and automatic body functions. It belongs to a group of disorders known as hereditary sensory and autonomic neuropathies (HSANs). The TECPR2 gene plays an important role in a cellular cleanup process called autophagy, and when this gene is not working properly, nerve cells do not function or survive as they should. Children with this condition typically show signs early in life, including low muscle tone (floppiness), breathing problems, difficulty feeding, and delayed development. Over time, they may develop reduced sensitivity to pain and temperature, gastroesophageal reflux, recurrent lung infections due to breathing difficulties, and intellectual disability. Many affected individuals also experience episodes of central sleep apnea, where breathing temporarily stops during sleep, which can be life-threatening. There is currently no cure for this condition. Treatment focuses on managing symptoms and preventing complications. This includes respiratory support, physical therapy, nutritional support, and careful monitoring of breathing during sleep. A multidisciplinary team of specialists is essential for providing the best possible care and quality of life.
Key symptoms:
Low muscle tone (floppiness) from birthBreathing problems including central sleep apneaDifficulty feeding and swallowingGastroesophageal refluxRecurrent lung infectionsDelayed motor developmentIntellectual disabilityReduced sensitivity to painReduced sensitivity to temperaturePoor coordination and unsteady walkingSpeech difficultiesShort statureSeizures in some casesExcessive droolingAbnormal eye movements
Clinical phenotype terms (23)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Hereditary sensory and autonomic neuropathy due to TECPR2 mutation.
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Specialists
View all specialists →No specialists are currently listed for Hereditary sensory and autonomic neuropathy due to TECPR2 mutation.
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 due to TECPR2 mutation.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's central sleep apnea, and what type of breathing support is recommended?,What feeding strategies or interventions can reduce the risk of aspiration?,How often should sleep studies and neurological evaluations be repeated?,What therapies (physical, occupational, speech) are most important to start right away?,Are there any clinical trials or research studies we could participate in?,What emergency signs should I watch for at home, and what is the emergency plan?,Should other family members be tested for carrier status?
Common questions about Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
What is Hereditary sensory and autonomic neuropathy due to TECPR2 mutation?
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation (also called HSAN type 9 or TECPR2-related hereditary sensory and autonomic neuropathy) is a rare genetic condition that affects the nervous system, particularly the nerves that control sensation and automatic body functions. It belongs to a group of disorders known as hereditary sensory and autonomic neuropathies (HSANs). The TECPR2 gene plays an important role in a cellular cleanup process called autophagy, and when this gene is not working properly, nerve cells do not function or survive as they should. Children with this c
How is Hereditary sensory and autonomic neuropathy due to TECPR2 mutation inherited?
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation 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 due to TECPR2 mutation typically begin?
Typical onset of Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is infantile. Age of onset can vary across affected individuals.