Living with Juvenile myoclonic epilepsy
A type of epilepsy that starts in childhood or the teen years with sudden muscle jerks, often soon after waking.
Understanding Juvenile myoclonic epilepsy
It usually starts between ages 12 and 18. The most common seizures are myoclonic seizures, which are fast, uncontrolled muscle jerks. Many people also have grand mal seizures a few years later, and some have staring spells (absence seizures). Seizures are most common in the morning, soon after waking, and can be triggered by lack of sleep, extreme tiredness, stress, or alcohol.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Morning muscle jerks (myoclonus)
- Seizures affecting the whole brain
- Grand mal seizures (tonic-clonic)
- Brief staring spells (absence seizures)
- Seizures triggered by lack of sleep or stress
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 EFHC1 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 EFHC1 gene are listed as a cause of this condition.
Also known as: efhc1-related juvenile myoclonic epilepsy; ejm; epilepsy, myoclonic juvenile; janz syndrome; jme; jme - juvenile myoclonic epilepsy
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 Juvenile myoclonic epilepsy.
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