Early-onset Lafora body disease

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A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria myoclonus ataxia seizures and cognitive decline. The disease takes a protracted course with patients surviving into adulthood developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming spasticity and hyperreflexia confusion mutism and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions so-called Lafora bodies.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026

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Early-onset Lafora body disease?

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Advocacy Organizations

Pediatric Epilepsy Research Consortium

The Pediatric Epilepsy Research Consortium (PERC) is a group of US pediatric epilepsy centers, researchers and professionals in field of epilepsy whose goal is to provide a network and infrastructure to facilitate collegial, collaborative practice-changing research that will provide answers needed to improve the care of children with epilepsy.

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Clinical Trials

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