Term Name: progressive myoclonus epilepsy 10
Synonyms: early-onset Lafora body disease, EPM10
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.
Ontology: Human Disease [DOID:0111445]   ( DOID:0111445 )

Relationships
is a type of: autosomal recessive disease progressive myoclonus epilepsy