Living with Infantile neuronal ceroid lipofuscinosis
A rare brain disease in which babies lose movement and thinking skills starting around 6 months.
Understanding Infantile neuronal ceroid lipofuscinosis
It usually starts when babies are around 6 months old and causes them to quickly lose their ability to move and think. They won't be able to do things like crawl, walk, or talk.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes:
- Loss of movement skills
- Loss of thinking skills
- Not able to crawl, walk, or talk
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Brain Disease Foundation
- 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
GARD doesn't describe a cause for this condition yet.
Also known as: classic infantile cln1 disease; hagberg-santavouri type neuronal ceroid lipofuscinosis; hagberg-santavuori disease; haltia-santavouri type neuronal ceroid lipofuscinosis; incl; infantile ncl
Patient organizations
- Children's Brain Disease FoundationInfantile neuronal ceroid lipofuscinosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Infantile neuronal ceroid lipofuscinosis.
Explore research for Infantile neuronal ceroid lipofuscinosis
Explore actively recruiting Infantile neuronal ceroid lipofuscinosis studies with HealthSpark.
Find actively recruiting studies for Infantile neuronal ceroid lipofuscinosis 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 Infantile neuronal ceroid lipofuscinosis 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 Infantile neuronal ceroid lipofuscinosis
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 Infantile neuronal ceroid lipofuscinosis 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.