Lafora disease

rare

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.

Identifiers: MONDO:0009697 Orphanet:501
Part of: Disorder of glycogen metabolism Movement disorder Progressive myoclonus epilepsy
Also known as: epilepsy progressive myoclonic 2 · epilepsy, progressive myoclonic 2A (Lafora) · epilepsy, progressive myoclonic 2B (Lafora) · EPM2 · Lafora body disorder

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Myoclonic epilepsy of Lafora 1	MONDO:0958199		EPM2A
Myoclonic epilepsy of Lafora 2	MONDO:0800306		NHLRC1

Rare disease

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