Living with Neuronal ceroid lipofuscinosis 9
A rare type of NCL (CLN9) with poor coordination, seizures, muscle twitches, vision loss, and loss of skills.
Understanding Neuronal ceroid lipofuscinosis 9
Symptoms may include loss of muscle coordination (ataxia), seizures that don't respond to medicines, muscle twitches (myoclonus), vision loss, and developmental regression (loss of skills already gained).
Signs & symptoms
GARD doesn't list a detailed symptom list, but the summary describes these features:
- Poor coordination (ataxia)
- Seizures that don't respond to medicines
- Muscle twitches (myoclonus)
- Vision loss
- Loss of skills (developmental regression)
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
The underlying gene is unknown, but it appears to be inherited in an autosomal recessive pattern, where a child inherits a changed copy of a gene from each parent.
Also known as: cln9; neuronal ceroid lipofuscinosis type 9
Patient organizations
- Children's Brain Disease FoundationNeuronal ceroid lipofuscinosis 9 · United States
You are more than your diagnosis
Perspectives from people navigating life with Neuronal ceroid lipofuscinosis 9.
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