Living with Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
An inherited nervous system condition that causes seizures, muscle jerks, and thinking problems that worsen, usually starting in adulthood.
Understanding Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Signs typically appear around age 30 but can appear anytime from the teen years to late adulthood. People often develop seizures with muscle jerks (myoclonic epilepsy), memory and thinking decline (dementia), poor balance and coordination, tremors, and speech problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures with sudden muscle jerks (myoclonic seizures)
- Seizures with full-body stiffening and shaking
- Decline in thinking (dementia)
- Depression
- Poor coordination and balance (ataxia)
- Tremors and involuntary movements
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 DNAJC5 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 DNAJC5 gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: autosomal dominant kufs disease; autosomal dominant neuronal ceroid lipofuscinosis 4b; ceroid lipofuscinosis, neuronal, 4 (kufs type), autosomal dominant; ceroid lipofuscinosis, neuronal, 4, parry type; cln4; cln4b disease
Patient organizations
- BDSRA FoundationCeroid lipofuscinosis, neuronal, 4 (Kufs type) · United States
- Children's Brain Disease FoundationCeroid lipofuscinosis, neuronal, 4 (Kufs type) · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Ceroid lipofuscinosis, neuronal, 4 (Kufs type).
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