Living with Late-infantile neuronal ceroid lipofuscinosis
A group of inherited conditions that start in infancy or early childhood with loss of thinking and movement skills, seizures, and vision loss.
Understanding Late-infantile neuronal ceroid lipofuscinosis
Children typically lose mental and motor skills, have epilepsy, and have vision loss from damage to the retina. The group has different genetic causes. It is a lysosomal storage disease, a type of condition in which a cell's waste-recycling system does not work properly.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Loss of thinking skills
- Loss of movement skills
- Epilepsy (seizures)
- Vision loss from retinal damage
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.
- 4Connect with expert centers
BDSRA Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: BDSRA Foundation
- 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 BDSRA Foundation 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
GARD says changes in genes (also called variants) cause this condition. The group has different genetic causes.
Also known as: amaurotic idiocy early juvenile type; amaurotic idiocy late infantile type; amaurotic idiocy, early juvenile type; amaurotic idiocy, late infantile type; bielschowsky-jansky disease; bielschowsky-jansky type neuronal ceroid lipofuscinosis
Patient organizations
- BDSRA FoundationLate-infantile neuronal ceroid lipofuscinosis · United States
- Children's Brain Disease FoundationLate-infantile neuronal ceroid lipofuscinosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Late-infantile neuronal ceroid lipofuscinosis.
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