Living with Lafora disease
An inherited brain disease that starts in late childhood or the teens with seizures, muscle jerks, and a decline in thinking.
Understanding Lafora disease
Symptoms usually start in late childhood or the teen years and worsen with time. Myoclonus, sudden muscle jerks, can happen at rest and gets worse with movement, excitement, or flashing light. Several seizure types occur, and over time seizures become harder to treat. Early signs include behavior changes, depression, confusion, and speech difficulties.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sudden muscle jerks (myoclonus)
- Seizures
- Decline in thinking skills (dementia)
- Balance and walking problems
- Speech difficulties
- Depression and confusion
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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 Chelsea's Hope: Lafora Children Research Fund 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
GARD says changes in genes (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: epilepsy progressive myoclonic 2; epilepsy, progressive myoclonic 2a (lafora); epilepsy, progressive myoclonic 2b (lafora); epm2; lafora body disease; lafora progressive myoclonic epilepsy
Patient organizations
- Chelsea's Hope: Lafora Children Research FundLafora disease · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Lafora disease.
Explore research for Lafora disease
Explore actively recruiting Lafora disease studies with HealthSpark.
Find actively recruiting studies for Lafora disease with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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