Living with Ceroid lipofuscinosis, neuronal, 6A
An inherited condition of the nervous system, usually starting in childhood, with loss of skills, seizures, and vision loss.
Understanding Ceroid lipofuscinosis, neuronal, 6A
Signs usually begin between early and late childhood but can appear in adulthood. Most children first lose skills they had learned (developmental regression). They can also develop repeated seizures, poor coordination, muscle twitches, speech problems, and vision loss. Movement problems worsen over time.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Its summary describes these features:
- Loss of learned skills (developmental regression)
- Repeated seizures (epilepsy)
- Poor coordination (ataxia)
- Muscle twitches (myoclonus)
- Speech problems (dysarthria)
- Vision loss
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 CLN6 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
Changes in the CLN6 gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: ceroid lipofuscinosis, neuronal, type 6; cln6; cln6 disease; cln6 late infantile neuronal ceroid lipofuscinosis; cln6-related neuronal ceroid-lipofuscinosis; cln6a
Patient organizations
- BDSRA FoundationCeroid lipofuscinosis, neuronal, 6A · United States
- Children's Brain Disease FoundationCeroid lipofuscinosis, neuronal, 6A · United States
- Epilepsy FoundationEpilepsy · United States
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Perspectives from people navigating life with Ceroid lipofuscinosis, neuronal, 6A.
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