Living with Adult neuronal ceroid lipofuscinosis
A group of inherited conditions that begin in a person's twenties, with memory loss, seizures, and loss of movement abilities.
Understanding Adult neuronal ceroid lipofuscinosis
These conditions begin in the third decade of life, which means the twenties. Some people also lose vision from damage to the retina. The group is genetically varied, which means more than one gene can be involved.
Signs & symptoms
Symptoms vary from person to person. GARD's summary says they include:
- Dementia
- Seizures
- Loss of movement abilities
- Vision loss in some people
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.
- 4Connect with expert centers
BDSRA Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: BDSRA 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 says changes in genes cause this group of conditions, and that several different genes can be involved.
Also known as: adult ncl; adult-type amaurotic idiocy; amaurotic idiocy adult type; amaurotic idiocy late familial; ancl; kufs disease
Patient organizations
- BDSRA FoundationAdult neuronal ceroid lipofuscinosis · United States
- Children's Brain Disease FoundationAdult neuronal ceroid lipofuscinosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Adult neuronal ceroid lipofuscinosis.
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