Lafora disease

Lafora disease is a rare, autosomal recessive genetic disorder that causes myoclonic epilepsy and usually leads to death within several years of the first symptoms. It is characterised by accumulation of inclusion bodies, called Lafora bodies, in the cytoplasm of cells in the heart, liver, muscle and skin. It is also a neurodegenerative disease that impairs the development of neurons in the cerebral cortex, and a disorder of glycogen metabolism. The Spanish neuropathologist Gonzalo Rodríguez Lafora described it in 1911. It is more frequent among children and adolescents from regions where consanguineous marriage is common, and dogs can also have it. There is no cure, though symptoms can be treated, and most patients do not live past age twenty-five.