rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Findings
No curated finding names rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands.
Definition from the Mondo Disease Ontology (MONDO:0011970), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Focal motor seizureHPOHP:0011153
- 6 of 6 reported patients
- Paroxysmal dystoniaHPOHP:0002268
- 6 of 6 reported patients · Childhood onset
- Frequent (30% to 79% of cases)
- Hand tremorHPOHP:0002378
- 5 of 6 reported patients
- EEG with parietal focal spike wavesHPOHP:0012012
- Frequent (30% to 79% of cases)
- EEG with parietal sharp wavesHPOHP:0011295
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
- Also called
- epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp