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    SubjectsMedicineLafora Body Disease (EPM2A/EPM2B) - Progressive Myoclonic Epilepsy EEG
    ClinicalMedicine

    Lafora Body Disease (EPM2A/EPM2B) - Progressive Myoclonic Epilepsy EEG

    1 MCQs in Medicine for NEET PG

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    A 16-year-old boy with consanguineous parents presents with a 10-month history of rapidly progressive myoclonic jerks, cognitive decline, and visual hallucinations with transient blindness. He has failed valproate therapy. Examination reveals continuous multifocal myoclonus, dysarthria, ataxia, and frontal cognitive impairment. Brain MRI shows mild global atrophy. Axillary skin biopsy reveals PAS-positive, diastase-resistant Lafora bodies in eccrine sweat gland epithelium. The EEG pattern marked **A** in the diagram — showing fast (>3.5 Hz) generalized polyspike-and-wave complexes with prominent occipital spikes and progressively disorganized slow background — is most characteristic of which genetic disorder?

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