Lafora disease
Findings
No curated finding names Lafora disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.
Definition from the Mondo Disease Ontology (MONDO:0009697), read 2026-09-29. CC BY 4.0.
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Lafora bodiesHPOHP:0100318
- Obligate (100% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- ConfusionHPOHP:0001289
- Frequent (30% to 79% of cases)
- DementiaHPOHP:0000726
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- Emotional labilityHPOHP:0000712
- Frequent (30% to 79% of cases)
- Erratic myoclonusHPOHP:0025357
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Generalized myoclonic seizureHPOHP:0002123
- Frequent (30% to 79% of cases)
- Giant somatosensory evoked potentialsHPOHP:0001312
- Frequent (30% to 79% of cases)
Show the remaining 23
- HeadacheHPOHP:0002315
- Frequent (30% to 79% of cases)
- HypsarrhythmiaHPOHP:0002521
- Frequent (30% to 79% of cases)
- Inability to walkHPOHP:0002540
- Frequent (30% to 79% of cases)
- Mental deteriorationHPOHP:0001268
- Frequent (30% to 79% of cases)
- Nasogastric tube feedingHPOHP:0040288
- Frequent (30% to 79% of cases)
- Recurrent aspiration pneumoniaHPOHP:0002100
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:3413HGNC:3413
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- NHLRC1HGNC:21576
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (2)
Other names
7 names
Resolves to: Lafora disease
- Also called
- epilepsy, progressive myoclonic 2A (Lafora)epilepsy, progressive myoclonic 2B (Lafora)EPM2myoclonic epilepsy of LaforaPME type 2progressive myoclonic epilepsy type 2progressive myoclonus epilepsy type 2