The progressive myoclonus epilepsies (PME) are a group of disorders with myoclonus as a prominent clinical feature in addition to generalized, focal, and atypical absence seizures. Lafora Disease (LD) presents in early adolescence and may initially mimic IGE though progressively worsening myoclonus after an initial GTC signals a different course. Slow cognitive decline, visual impairment, visual hallucinations, and occipital seizures become evident. Progressive myoclonus, refractory epilepsy, dementia, ataxia, and speech dysfunction occurs. Total care is evident prior to a fatal demise which occurs within 10 years after onset. EEG changes may precede the clinical symptoms by 6 years. Diffuse slowing and generalized IEDs occur in virtually everyone. Slowing and loss of an alpha rhythm gradually became replaced by generalized IEDs with occipital predominance in addition to focal and multi-focal abnormalities. The IEDs wane during sleep unlike genetic generalized epilepsy where the IEDs become more prominent. Giant SSEPs were seen. A biopsy demonstrated Lafora bodies. He died at 21 years old.
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