Unverricht–Lundborg disease
Genetic epilepsy disorder / From Wikipedia, the free encyclopedia
Unverricht–Lundborg disease (abbreviated ULD or EPM1) is the most common form of an uncommon group of genetic epilepsy disorders called the progressive myoclonus epilepsies.[1] It is caused due to a mutation in the cystatin B gene (CSTB).[2] The disease is named after Heinrich Unverricht, who first described it in 1891,[3][4] and Herman Bernhard Lundborg, who researched it in greater detail in 1901[5] and 1903.[6] ULD onsets in children between the ages of 6 and 16; there are no known cases in which the person was older than 18.[7] Most cases originate from the Baltic region of Europe, though many have been reported from countries in the Mediterranean.[2]
Onset of the disease is characterized by myoclonic jerks and tonic-clonic seizures.[7] Early cases often resulted in the need of a wheelchair and death before the age of 24,[8] but new treatments and medications have increased the life expectancy of individuals with ULD, in some cases even to near that of an unaffected individual.[7]