Unverricht-Lundborg disease

Unverricht-Lundborg disease, abbreviated ULD or EPM1, is a genetic epilepsy disorder and the most common form of an uncommon group called the progressive myoclonus epilepsies. It is caused by a mutation in the cystatin B gene, known as CSTB. The condition carries the names of two physicians: Heinrich Unverricht, who first described it in 1891, and Herman Bernhard Lundborg, who researched it in greater detail in 1901 and 1903. It begins in childhood, between the ages of 6 and 16, and the source records no known case with onset after 18. Most reported cases originate in the Baltic region of Europe, though many have also been reported in Mediterranean countries. Onset is marked by myoclonic jerks and tonic-clonic seizures. Early cases often led to the need for a wheelchair and to death before the age of 24, but newer treatments and medications have lengthened life expectancy, in some cases to near that of an unaffected person.