Living with Progressive myoclonic epilepsy with dystonia
A rare genetic epilepsy syndrome that starts in the newborn or infant period, with seizures and muscle spasms.
Understanding Progressive myoclonic epilepsy with dystonia
It causes frequent, long myoclonic seizures that are hard to treat. It also causes episodes of muscle spasms and twisting (dystonia) that later become constant. Other features include very low muscle tone, weakness on one side of the body, loss or lack of developmental skills, and shrinking of parts of the brain.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sudden muscle jerks (myoclonus)
- Muscle spasms and twisting (dystonia)
- Seizures that don't stop or recover (status epilepticus)
- Low muscle tone as a newborn
- Loss of developmental skills
- Feeding difficulties
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 TBC1D24 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
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
This condition is caused by changes in the TBC1D24 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: pmed; progressive myoclonus epilepsy with dystonia
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 with dystonia.
Explore research for Progressive myoclonic epilepsy with dystonia
Explore actively recruiting Progressive myoclonic epilepsy with dystonia studies with HealthSpark.
Find actively recruiting studies for Progressive myoclonic epilepsy with dystonia 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 with dystonia 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 with dystonia
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 with dystonia 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.