How is Lafora diagnosed?

Lafora Disease is diagnosed by conducting a series of tests by a neurologist, epileptologist (person who specializes in epilepsy), or geneticist. To confirm the diagnosis, an EEG, MRI, and genetic testing are needed. A biopsy may be necessary as well to detect and confirm the presence of Lafora bodies in the skin.

What chromosome is Lafora disease on?

Most cases of Lafora disease are caused by mutations in one of two known genes: EMP2A and EMP2B. Both genes are located in chromosome 6. The gene EPM2A makes the protein called Laforin and the gene EPM2B makes the protein called Malin.

What type of mutation causes Lafora disease?

Lafora disease is caused by loss-of-function mutations in EPM2A or NHLRC1, which encode laforin and malin, respectively. The absence of either protein results in poorly branched, hyperphosphorylated glycogen, which precipitates, aggregates and accumulates into Lafora bodies.

What disease is laforin associated with?

Laforin is a dual specificity protein phosphatase involved in Lafora disease (LD), a fatal form of progressive myoclonus epilepsy characterized by neurodegeneration and the presence of intracellular polyglucosan inclusions (Lafora bodies) in different tissues.

Can Lafora disease be cured?

Unfortunately, there is currently no cure or way to slow the progression of Lafora disease. Treatment is based on the signs and symptoms present in each person. For example, certain medications may be recommended to manage generalized seizures.

What is lafora in dachshunds?

Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature Wirehaired Dachshund. The disease is due to a mutation in the Epm2b gene which results in intracellular accumulation of abnormal glycogen (Lafora bodies).

How do you treat Lafora?

How does laforin cause epilepsy?

Lafora progressive myoclonus epilepsy can be caused by mutations in either the EPM2A gene or the NHLRC1 gene. These genes provide instructions for making proteins called laforin and malin, respectively. Laforin and malin play a critical role in the survival of nerve cells (neurons) in the brain .

How many people are affected by Lafora disease?

The disease has been found in more than 250 families throughout the world, resulting from EPM2A (responsible for Laforin) and EPM2B (responsible for E3 ubiquitin-protein ligase NHLRC1) mutations, and the prevalence seems to be close to four cases per one million persons.

What are the side effects of levetiracetam in dogs?

The most common side effects include sleepiness and incoordination in dogs. In cats, a decreased appetite, incoordination, drooling, and sleepiness most commonly occur. Serious side effects include persistent vomiting or sudden changes in behavior.

What is a Lafora body?

Researchers have discovered that people with Lafora progressive myoclonus epilepsy have distinctive clumps called Lafora bodies within their cells. Lafora bodies are made up of an abnormal form of glycogen that cannot be broken down and used for fuel. Instead, it builds up to form clumps that can damage cells.

What is Lafora disease?

What is 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.

Is there a way to slow the progression of Lafora disease?

Unfortunately, there is currently no cure or way to slow the progression of Lafora disease. Treatment is based on the signs and symptoms present in each person. For example, certain medications may be recommended to manage generalized seizures. In the advanced stages of the condition,…

What is the long-term outlook for people with Lafora disease?

The long-term outlook (prognosis) for people with Lafora disease is unfortunately poor. There is currently no cure for the condition and it is considered progressive (symptoms worsen over time).

How old do you have to be to have Lafora disease?

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.