What is a Lafora body?

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.

Is there a cure for 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.

How is Lafora disease 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.

How does laforin cause 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 is myoclonic seizure?

Myoclonic seizures are characterized by brief, jerking spasms of a muscle or muscle group. They often occur with atonic seizures, which cause sudden muscle limpness.

What are the symptoms of Batten disease?

The first signs of Batten disease include:

  • Vision loss (this symptom does not affect adults with Batten disease).
  • Epilepsy (seizures).
  • Cognitive problems, trouble learning or difficulty keeping up in school.
  • Problems with speaking.
  • Clumsiness and issues with coordination, balance and movement.

What’s the worst type of seizure?

A grand mal seizure causes a loss of consciousness and violent muscle contractions. It’s the type of seizure most people picture when they think about seizures. A grand mal seizure — also known as a generalized tonic-clonic seizure — is caused by abnormal electrical activity throughout the brain.

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