Early-onset Lafora body disease
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
Early-onset Lafora body disease?
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