Living with Congenital insensitivity to pain with severe intellectual disability
A rare inherited condition from birth with no sense of pain, little response to soft touch and severe, non-worsening developmental delay.
Understanding Congenital insensitivity to pain with severe intellectual disability
People also do not respond to soft touch and have severe cognitive delay that does not get worse over time. Movement, behavior and strength are normal. Hot and cold sensing is kept.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Not feeling pain
- Not responding to soft touch
- Severe global developmental delay
- Repeated fractures
- Self-injury
- Eye problems such as corneal inflammation
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CLTCL1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The Foundation for Peripheral Neuropathy and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the CLTCL1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: congenital absence of pain with severe intellectual disability; congenital analgesia with severe intellectual disability; congenital insensitivity to pain with preserved temperature sensation; congenital insensitivity to pain with severe non-progressive cognitive delay
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital insensitivity to pain with severe intellectual disability.
Explore research for Congenital insensitivity to pain with severe intellectual disability
Explore actively recruiting Congenital insensitivity to pain with severe intellectual disability studies with HealthSpark.
Find actively recruiting studies for Congenital insensitivity to pain with severe intellectual disability with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Congenital insensitivity to pain with severe intellectual disability studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Congenital insensitivity to pain with severe intellectual disability
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Congenital insensitivity to pain with severe intellectual disability experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.