Lafora disease

Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. Affected people also experience rapid cognitive deterioration that begins around the same time as the seizures. The condition is often fatal within 10 years of onset. Most cases are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.^[1][2][3]

Lafora disease typically begins between ages 12 and 17 years, after a period of apparently normal development. However, there are reports of later onset forms of the condition. In these cases,the affected person often begins showing signs and symptoms of Lafora disease between ages 21 and 28. Some studies suggest that later onset cases of Lafora disease may be associated with a slower disease progression.^[4][5]