Living with Progressive myoclonic epilepsy type 3
A rare genetic brain condition with muscle jerks, seizures, and loss of skills, starting in infancy or childhood.
Understanding Progressive myoclonic epilepsy type 3
Onset is in infancy or childhood. Symptoms include sudden muscle jerks (myoclonus), seizures, and loss of skills a child had already learned.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sudden muscle jerks (myoclonus)
- Focal myoclonic seizures
- Loss of developmental milestones
- Intellectual disability
- Poor balance in the trunk (truncal ataxia)
- Slurred speech (dysarthria)
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in KCTD7 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); 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
This condition is caused by changes in the KCTD7 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: ceroid lipofuscinosis, neuronal, 14; cln14 disease; epilepsy, progressive myoclonic 3, with or without intracellular inclusions; epilepsy, progressive myoclonic, 3, with or without intracellular inclusions; epilepsy, progressive myoclonic, 3, without intracellular inclusions; epm3
Patient organizations
- BDSRA FoundationProgressive myoclonic epilepsy type 3 · United States
- Children's Brain Disease FoundationProgressive myoclonic epilepsy type 3 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive myoclonic epilepsy type 3.
Explore research for Progressive myoclonic epilepsy type 3
Explore actively recruiting Progressive myoclonic epilepsy type 3 studies with HealthSpark.
Find actively recruiting studies for Progressive myoclonic epilepsy type 3 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Progressive myoclonic epilepsy type 3 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Progressive myoclonic epilepsy type 3
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Progressive myoclonic epilepsy type 3 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.