Living with Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
A rare genetic epilepsy syndrome with childhood seizures that fade with age and exercise-related muscle cramping that may last into adulthood.
Understanding Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
It starts with seizures in infancy or childhood that affect one part of the body and fade with age. In childhood, exercise-triggered dystonia (muscle contractions causing twisting or odd postures) begins and often lasts into adulthood. Other reported features include rapid eye movements (nystagmus) and hand tremor.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures that affect one side of the face
- Exercise-triggered dystonia
- Writer's cramp
- Involuntary side-to-side eye movements (nystagmus)
- Hand tremor with posture
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
It is caused by changes in the TBC1D24 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp; re-ped-wc; rolandic epilepsy exercise-induced dystonia; rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome
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 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome.
Explore research for Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Explore actively recruiting Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome studies with HealthSpark.
Find actively recruiting studies for Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 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 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 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 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
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 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 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.