Living with Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
A rare nervous system condition (progressive epilepsy with intellectual disability, Finnish type) with seizures, learning problems, and sometimes vision loss.
Understanding Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
People have seizures, intellectual disability, and slowly worsening skills. Some also have decreased vision. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures with muscle jerks
- Intellectual disability
- Poor coordination (ataxia)
- Delayed speech and loss of speech
- Vision loss that gets worse
- Loss of motor 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 brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in CLN8 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 CLN8 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cln8 disease, northern epilepsy variant; early onset familial encephalopathy with neuroserpin inclusion bodies; epmr; ncl, northern epilepsy variant; neuronal ceroid lipofuscinosis, northern epilepsy variant; northern epilepsy
Patient organizations
- BDSRA FoundationNeuronal ceroid lipofuscinosis 8 northern epilepsy variant · United States
- Children's Brain Disease FoundationNeuronal ceroid lipofuscinosis 8 northern epilepsy variant · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Neuronal ceroid lipofuscinosis 8 northern epilepsy variant.
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