General Information About Lafora Disease
Disease Details and Frequently Asked Questions
It is a genetic glycogen storage disease and a severe type of epilepsy.
It is inherited in an autosomal recessive manner due to mutations in the EPM2A or NHLRC1 genes.
Visual hallucinations, myoclonic jerks, epileptic seizures, and rapidly progressive dementia.
These are abnormal polysaccharide structures that accumulate in cells and are toxic to neurons.
It is detected by EEG, genetic testing, and the observation of Lafora bodies in a skin/muscle/liver biopsy.
There is no definitive cure. Antiepileptics are used to control seizures; life expectancy is generally short.
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