Unverricht-Lundborg disease
Unverricht-Lundborg myoclonic epilepsy

Over the years, the form of epilepsy became known as the Unverricht-Lundborg disease.

Other methods to diagnose Unverricht-Lundborg disease are currently being explored.

Many studies have been performed recently to investigate the cause, mechanism, and chemical basis of Unverricht-Lundborg disease.

New research shows that cystatin B may not be the only factor involved in Unverricht-Lundborg disease.

Unverricht-Lundborg disease is an autosomal recessive inherited disorder seen in individuals as young as six years.

It has been shown effective in the treatment of Unverricht-Lundborg disease in an open trial in 4 patients.

While the genetic cause of Unverricht-Lundborg disease is known, the mechanism by which it works is not fully known.

For early Unverricht-Lundborg disease patients, the disease would begin to progress early and lack of effective treatment meant a quick progression.

Patients with Unverricht-Lundborg disease exhibit myoclonic jerks and tonic-clonic seizures at a young age, between ages 6-16.

This damage coupled with the increased excitability of the cells then leads to more damage, which is what makes Unverricht-Lundborg disease progressive.

Unverricht-Lundborg disease at:

The only currently available method to diagnose Unverricht-Lundborg disease is a genetic test to check for the presence of the mutated cystatin B gene.

Currently, electroencephalography (EEG) is not very effective as a diagnostic tool for Unverricht-Lundborg disease.

In 1891 he described a form of PME that was later come to be known by the eponymous label "Unverricht-Lundborg disease".

The only country that Unverricht-Lundborg disease has a reported incidence is in Finland, where it is reported to occur in 4 in 100,000 individuals.

Unverricht-Lundborg disease is also known as EPM1, as it is a form of progressive myoclonic epilepsy (PME).

Unverricht-Lundborg disease was first known as one of two different diseases, depending on the location of the individual who had it: Baltic myoclonus or Mediterranean myoclonus.

Instead of addressing the symptoms, another direction of Unverricht-Lundborg disease treatment involves correcting the deficiency in cystatin B by delivering it to the brain from an outside source.

As a result, individuals with Unverricht-Lundborg disease are now much less likely to end up in a wheelchair, which eliminates the chance of complications involved with being a wheelchair user.

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.

Diseases usually classified in this group are Unverricht-Lundborg disease, myoclonus epilepsy with ragged red fibers (MERRF syndrome), Lafora disease, neuronal ceroid lipofucinosis, and sialdosis.

If an individual with Unverricht-Lundborg disease is particularly sensitive to a certain type of stimulus, it is also beneficial to reduce the patient's exposure to that stimulus in order to reduce the likelihood of seizures.

The results show that cystatin B has a polymeric structure, and that the mutated form of cystatin B, which is present in patients with Unverricht-Lundborg disease, is likely to attract other molecules of cystatin B and form clumps of the molecule.