Cln type 2 is a very rare metabolic disorder in which children from the age of 3 are increasingly suffering from epilepsy, problems with movement, sleeping, thinking and loss of sight. Eventually, the children also suffer more from choking and pneumonitis.
Metabolic disorders are caused by the lack of specific enzymes in the body cells. These enzymes are necessary for building up tissues, muscles, bones, organs as well as for releasing energy. Cln 2 is a genetic disease in which often both parents are carriers. Cln 2 is caused by an error of genetic material (DNA) on the 11th chromosome. As a result of this DNA error, a specific protein (TPP1 protein) is not properly produced. This protein plays an important role in the protein catabolism. The lack of this protein especially damages the brain cells, causing severe neurological deterioration. The life expectancy for children with Cln2 is very short (8 – 12 years).
For more information about Cln type 2, please refer to https://www.kinderneurologie.eu