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Early-onset Lafora body disease

rare

Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

Causal genes
PRDM8
Also known as
epilepsy, progressive myoclonic, 10 · epilepsy, progressive myoclonic, type 10 · EPM10

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