Living with Progressive myoclonic epilepsy
A group of rare inherited brain conditions with muscle jerks and seizures that worsen over time.
Understanding Progressive myoclonic epilepsy
Symptoms get worse over time. Many of these diseases begin in childhood or the teen years. They are passed from parents to children.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Sudden muscle jerks (myoclonus)
- Repeated seizures (epilepsy)
- Problems with thinking and memory
- Abnormal muscle movements or posture (dystonia)
- Difficulty walking
- Difficulty speaking
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
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: 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 Epilepsy 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
GARD says changes in genes cause these diseases, and parents pass them to their children. It doesn't name a gene for the group as a whole.
Also known as: epilepsy, progressive myoclonic; familial progressive myoclonic epilepsy; myoclonic epilepsies, progressive; myoclonus epilepsy; pme; progressive myoclonic epilepsy (disorder) [ambiguous]
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive myoclonic epilepsy.
Explore research for Progressive myoclonic epilepsy
Explore actively recruiting Progressive myoclonic epilepsy studies with HealthSpark.
Find actively recruiting studies for Progressive myoclonic epilepsy 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 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
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 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.