Living with Neuronal ceroid lipofuscinosis 5
A type of NCL (CLN5) with poor coordination, seizures, muscle twitches, and vision loss, mostly in the Finnish population.
Understanding Neuronal ceroid lipofuscinosis 5
Affected people may have loss of muscle coordination (ataxia), seizures that don't respond to medicines, muscle twitches (myoclonus), vision loss, and decline in thinking and movement. It occurs mostly in the Finnish population. GARD lists onset in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Muscle twitches (myoclonus)
- Vision loss that gets worse
- Limb tremor
- Loss of ability to walk
- Loss of brain tissue
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 CLN5 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
CLN5-NCL is caused by changes in the CLN5 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: ceroid lipofuscinosis, neuronal, 5, variable age at onset; ceroid lipofuscinosis, neuronal, type 5; cln5; cln5 disease; cln5 neuronal ceroid lipofuscinosis; cln5-related neuronal ceroid-lipofuscinosis
Patient organizations
- BDSRA FoundationNeuronal ceroid lipofuscinosis 5 · United States
- Children's Brain Disease FoundationNeuronal ceroid lipofuscinosis 5 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Neuronal ceroid lipofuscinosis 5.
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