Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Lafora disease, also called Lafora progressive myoclonic epilepsy, is a fatal autosomal recessive[1] extrapyramidal genetic disorder characterized by the presence of inclusion bodies, known as Lafora bodies, within the cells of neurons, heart, liver, muscle, and skin.
Most patients with this disease do not live past the age of twenty five and death within ten years of symptoms is usually inevitable [2] At this time there is no cure or treatment for this disease.
Epilepsy occurs in one percent of all humans. Lafora Disease begins to show in children from 10 to 17 years old. There is no gender bias, both men and women are affected equally. This disease is extremely rare, thought to affect approximately 1 in a million individuals.
Lafora Disease is an autosomal recessive disorder, caused by mutations in one of two known genes, one being called EPM2A and the other called EPM2B. EPM2A is a gene that codes for a certain protein called laforin which is a dual specificity phosphatase. EPM2B encodes a protein called malin, which is an E3 ubiquitin ligase. At least one other gene is thought to contribute to the disease.
The most distinguishing feature of Lafora Disease is the presence of inclusions called “Lafora bodies” within the cytoplasm, the viscous fluidic matrix inside of cells. Lafora bodies are composed of abnormal glycogen called polyglucosans. These polyglucosans are starch-like, and build up in the cell. Lafora bodies, while not normally present in the brain, are usually found in the neurons of the brain in patients affected by the disease. [3]
Neurons are responsible for transmitting and receiving signals for the brain from other nerves in the body. Most important for Lafora Disease is the fact that neurons control muscle contraction which is uncontrolled in those afflicted with the disease. Current research has shown that cells do not use these foreign bodies, and they have no benefit for the body.
[tubepress mode=’tag’, tagValue=’Lafora disease’]