Living with Generalized epilepsy-paroxysmal dyskinesia syndrome
A rare genetic condition that combines seizures with sudden, brief episodes of abnormal movements.
Understanding Generalized epilepsy-paroxysmal dyskinesia syndrome
People or families have both generalized epilepsy (usually absence or generalized tonic-clonic seizures) and paroxysmal dyskinesia, which are sudden episodes of unwanted movement. GARD says how common it is remains unknown. It is usually noticed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures that affect the whole brain (generalized seizures)
- Sudden episodes of abnormal movement (paroxysmal dyskinesia)
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 KCNMA1 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
Changes in the KCNMA1 gene cause this condition. It is inherited in an autosomal dominant way, which means one changed copy of the gene is enough.
Also known as: generalized epilepsy and paroxysmal dyskinesia; gepd; paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy; pnkd3
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 Generalized epilepsy-paroxysmal dyskinesia syndrome.
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