progressive myoclonus epilepsy 10

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 chro

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.

Signs and symptoms

• Mutism
• Spastic tetraplegia
• Generalized myoclonic seizure
• Spastic ataxia
• Seizure
• Dysarthria
• Urinary incontinence
• Ataxia
• Progressive cerebellar ataxia
• Paranoia

Also known as: EPM10; early-onset Lafora body disease