How common is Lafora disease?
Typically Lafora is very rare in children, adolescents and adults worldwide. However, Lafora disease has a higher incidence among children and adolescents with ancestry from regions where incestuous relationships are common, namely the Mediterranean (North Africa, Southern Europe), the Middle East, India, and Pakistan.
What causes Lafora disease?
Most cases of Lafora disease are caused by changes ( mutations ) in either the EPM2A gene or the NHLRC1 gene. These genes encode proteins that play a critical role in the survival of nerve cells (neurons) in the brain.
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.
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 .
What are the symptoms of Lafora disease?
The first 2–3 years of Lafora disease are characterized by the following symptoms:
- Ataxia.
- Confusion.
- Depression.
- Grand mal seizures.
- Staring spells and/or absence seizures.
- Drop in school performance.
- Drop attacks.
- Myoclonus.
What does a myoclonic seizure feel like?
A myoclonic seizure is where some or all of your body suddenly twitches or jerks, like you’ve had an electric shock. They often happen soon after waking up. Myoclonic seizures usually only last a fraction of a second, but several can sometimes occur in a short space of time. You normally remain awake during them.
What are treatments for Lafora disease?
Currently, AEDs are the only available treatments that control the severity and frequency of seizures and myoclonus to some degree in patients with Lafora disease. Among these drugs, valproic acid is the mainstay.
What triggers myoclonic seizures?
Myoclonic seizures are caused by abnormal electrical activity in the brain, which triggers the myoclonic muscle movements. Often, they are exacerbated by tiredness, alcohol, fevers, infections, photic (light) stimulation, or stress.