Living with Neuronal ceroid lipofuscinosis 7
A type of NCL (CLN7) that starts between ages 2 and 7 with vision loss and clumsiness, followed by seizures and loss of skills.
Understanding Neuronal ceroid lipofuscinosis 7
Signs and symptoms typically begin between ages 2 and 7. The first features are usually vision loss and movement problems that might seem like clumsiness. Others include muscle twitches, poor coordination, recurrent seizures, and speech problems. Thinking and motor skills, such as sitting and walking, decline with age. It is one type of NCL, also known as Batten disease.
Signs & symptoms
GARD doesn't list a detailed symptom list, but the summary describes these features:
- Vision loss
- Clumsiness and movement problems
- Muscle twitches (myoclonus)
- Poor coordination (ataxia)
- Seizures (epilepsy)
- Speech problems
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 MFSD8 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
GARD lists changes in the MFSD8 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: ceroid lipofuscinosis, neuronal, type 7; cln7; cln7 disease; mfsd8 neuronal ceroid lipofuscinosis; mfsd8-related neuronal ceroid-lipofuscinosis; neuronal ceroid lipofuscinosis caused by mutation in mfsd8
Patient organizations
- BDSRA FoundationNeuronal ceroid lipofuscinosis 7 · United States
- Children's Brain Disease FoundationNeuronal ceroid lipofuscinosis 7 · United States
- Mila's Miracle FoundationNeuronal ceroid lipofuscinosis 7 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Neuronal ceroid lipofuscinosis 7.
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