Living with Unverricht-Lundborg syndrome
An inherited form of epilepsy (progressive myoclonic epilepsy type 1) with muscle jerks and seizures starting in childhood or the teen years.
Understanding Unverricht-Lundborg syndrome
Early development is normal. Signs usually begin between ages 6 and 15, with muscle jerks (myoclonus) that become more frequent and severe over time. Jerks can be set off by exertion, stress, or light. People also usually have tonic-clonic (grand mal) seizures, which may be controlled with treatment. Later, problems with balance, speech, and tremor, and depression, can develop. Severity varies, even within a family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle jerks or twitches (myoclonus)
- Seizures with loss of consciousness
- Poor balance and coordination (ataxia)
- Trouble speaking clearly (dysarthria)
- Tremor that worsens with movement
- Morning myoclonic jerks
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 CSTB 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 Hope for ULD and other patient organizations
- 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 CSTB gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: baltic myoclonus epilepsy; epilepsy, progressive myoclonic 1a (unverricht and lundborg); epilepsy, progressive myoclonic, 1a; epm1; myoclonic epilepsy of unverricht and lundborg; myoclonus progressive epilepsy of unverricht and lundborg
Patient organizations
- Hope for ULDUnverricht-Lundborg syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Unverricht-Lundborg syndrome.
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