Living with Juvenile neuronal ceroid lipofuscinosis
A group of inherited conditions that start around early school age with vision loss, seizures, and loss of thinking and movement skills.
Understanding Juvenile neuronal ceroid lipofuscinosis
People typically have vision loss from a retinal disease (retinopathy), seizures, and a decline in thinking and movement skills. 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:
- Vision loss from retinal disease
- Seizures
- Decline in thinking skills
- Decline in movement skills
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 says changes in genes (also called variants) cause this condition. The group has different genetic causes.
Also known as: batten disease; jncl; juvenile ncl; spielmeyer-vogt disease
Patient organizations
- Children's Brain Disease FoundationJuvenile neuronal ceroid lipofuscinosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Juvenile neuronal ceroid lipofuscinosis.
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