progressive myoclonus epilepsy 10 (DOID:0111445)
Alliance: disease page
Synonyms: early-onset Lafora body disease; EPM10
Alt IDs: OMIM:616640, ORDO:324290
Definition: A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21.