Lafora disease is a terminal untreatable genetic condition that results in the breakdown of neurons and affects glycogen metabolism. It only presents when a patient inherits copies of a defective gene from both parents. Patients rarely live past the age of 25 and usually present with symptoms in adolescence. Once diagnosed by finding the "Lafora bodies" during a biopsy, it can now be definitively diagnosed by less invasive genetic testing.
Treatment focuses on symptoms and supportive care. Patients usually succumb to severe ataxia and dementia in the later stages.