Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the. Unverricht-Lundborg disease (EPM1; OMIM ) is the most common of the rare genetically heterogeneous progressive myoclonic. Unverricht-Lundborg disease (ULD), progressive myoclonic epilepsy type 1 ( EPM1, OMIM), is an autosomal recessively inherited.

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ChildhoodAdolescent ICD The natural history of Unverricht-Lundborg disease: By using this site, you agree to the Terms of Use and Privacy Policy.

Unverricht–Lundborg disease – Wikipedia

Ueber Degeneration und degenerierte Geschlechter in Schweden. Sudden unexpected death in epilepsy Todd’s paresis Landau-Kleffner syndrome Epilepsy in animals. While electroencephalogram EEG is useful in identifying or diagnosing other forms of epilepsy, the location of seizures in ULD is currently known to be generalized across the entire brain.

From Wikipedia, the free encyclopedia. Valproic acid is the first line drug choice for reducing generalised seizures and myoclonus. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. In humans it is generally known that unless a patient has both recessive CSTB genes are homozygous recessivethey will not express ULD symptoms.

Unverricht-Lundborg disease ULD is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time. The results of this study indicate that the cause of ULD may be more complex than currently thought.


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

While there is no current cure to repair the mutated CSTB gene, several antiepileptic drugs are effective in reducing seizures and helping patients with ULD to manage the symptoms. Dtsch Z Nervenheilk ; 7: Without a specific region to pinpoint, it is difficult to accurately distinguish an EEG reading from an individual lunddborg ULD from an individual with another type of epilepsy characterized by generalized brain seizures.

Orphanet: Enfermedad de Unverricht Lundborg

A recent study has attempted to characterize the effects, if any, seen in mice that carry only one recessive CSTB gene are heterozygous. Epilepsia partialis continua Complex partial status epilepticus. Baltic myoclonus or Mediterranean myoclonus.

Autosomal recessive disorders Epilepsy types Rare diseases. Eventually, both were realized to be the same disease, ULD.

Unverricht–Lundborg disease

Health care resources for this disease Expert centres Diagnostic tests 45 Patient organisations 48 Orphan drug s 2. The cause of ULD is known to be a mutation of the gene that produces cystatin B. Cystatin B and its EPM1 mutants are polymeric and aggregate prone in vivo. Check this box if you wish to receive a copy of your message. The only country that Unverricht—Lundborg disease has a reported incidence is in Finland, where it is reported to occur in 4 inindividuals.


Neurobiology of Disease While the results for the heterozygous mice were not remarkably different from the normal mice, they do indicate that carrying just one recessive CSTB gene may have adverse effects, at least in mice.

In addition, new research is being performed to examine the effectiveness of other types of treatments. A report of eight genetically proven cases. Summary and related texts. Clonazepam and high-dose piracetam can alleviate myoclonus.

It has shown that a lack of cystatin B due to a mutation of the CSTB gene leads to a decrease in the number of inhibitory neurons, and this lack of inhibition makes the cells in the brain, particularly the hippocampusmore excitable. Levetiracetam is also effective for both generalised seizures and myoclonus.

Due to the progressive nature of the disease, depression is prevalent, [8] but support of ejfermedad and friends as well as proper treatment can help. This damage coupled with the increased excitability of the cells then leads to more damage, which is what makes Unverricht—Lundborg disease progressive.