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early-onset Lafora body disease (EPM10) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

early-onset Lafora body disease

MONDO:0014717

Also known as:EPM10epilepsy, progressive myoclonic, 10epilepsy, progressive myoclonic, type 10

Overview

Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

GeneticsAutosomal recessive · PRDM8 (chr 4)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Lafora bodies and Sudden, brief involuntary muscle jerks (myoclonus); and common findings: Dysarthria, Overactive reflexes (hyperreflexia), and Atypical behavior. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	19	Mutism, Spastic tetraplegia, Generalized myoclonic seizure

Genetic Landscape

PRDM8 function has not been fully characterized.

Early-onset Lafora body disease is associated with mutations in the PRDM8 gene on chromosome 4.

Diagnosis

Genetic testing for PRDM8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for early-onset Lafora body disease has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 very common features, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for early-onset Lafora body disease.

25 publications have been identified in PubMed for early-onset Lafora body disease. Research spans Case Report / Case Series (52%), Review / Meta-Analysis (13%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Patient case studies	12	52%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616640

Orphanet

European rare disease database

Orphanet:324290

GARD

Genetic and Rare Diseases Info Center

GARD:17482

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

early-onset Lafora body disease

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

16-Year-Old Boy Diagnosed with Fatal Rare Disease Days After Brother Died from the Same Disease

early-onset Lafora body disease

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

16-Year-Old Boy Diagnosed with Fatal Rare Disease Days After Brother Died from the Same Disease