Living with Neuronal ceroid lipofuscinosis 1
A type of NCL caused by changes in the PPT1 gene, with seizures and loss of skills, starting in infancy.
Understanding Neuronal ceroid lipofuscinosis 1
It is one of a group of inherited nervous system conditions in which fatty pigments build up inside cells. Features include seizures, loss of skills, poor coordination, vision loss, low muscle tone, developmental delay, and intellectual disability. GARD lists onset in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of skills (psychomotor deterioration)
- Seizures
- Poor coordination (ataxia)
- Vision loss
- Low muscle tone
- Delayed development
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, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in PPT1 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
BDSRA Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: BDSRA Foundation, Epilepsy 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
It is caused by changes in the PPT1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: ceroid lipofuscinosis neuronal 1; ceroid lipofuscinosis, neuronal, 1; ceroid lipofuscinosis, neuronal, 1, variable age at onset; ceroid lipofuscinosis, neuronal, type 1; ceroid storage disease; cln1
Patient organizations
- BDSRA FoundationNeuronal ceroid lipofuscinosis 1 · United States
- Children's Brain Disease FoundationNeuronal ceroid lipofuscinosis 1 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Neuronal ceroid lipofuscinosis 1.
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