CLN2 disease is a rare, inherited, neurodegenerative disorder caused by a mutation in the TPP1 gene. It is a form of Batten disease, a group of rare, inherited, progressive neurological disorders that typically begin in childhood. Symptoms of CLN2 disease include vision loss, seizures, language and motor skill delays, and dementia.

The most common symptoms of CLN2 disease, also known as Batten disease, include progressive vision loss, seizures, loss of motor skills, dementia, and personality changes. Other symptoms may include speech and language delays, difficulty swallowing, and involuntary muscle movements.

CLN2 disease is caused by a mutation in the TPP1 gene, which is responsible for producing the enzyme tripeptidyl peptidase 1. This enzyme is responsible for breaking down certain proteins in the body, and when it is not functioning properly, it can lead to the buildup of these proteins in the brain and other organs, resulting in CLN2 disease.

The primary treatment for CLN2 disease is enzyme replacement therapy (ERT). ERT involves the intravenous infusion of a recombinant form of the missing enzyme, tripeptidyl peptidase 1 (TPP1). This enzyme helps break down the fatty substances that accumulate in the brain and other organs of people with CLN2 disease. Other treatments may include physical, occupational, and speech therapy, as well as medications to help manage seizures, pain, and other symptoms.

1. Family history of CLN2 disease
2. Age (most commonly diagnosed in children between 2 and 4 years old)
3. Genetic mutation in the TPP1 gene
4. Exposure to certain environmental toxins
5. Low levels of vitamin E in the body
6. Low levels of selenium in the body
7. Low levels of copper in the body
8. Low levels of zinc in the body
9. Low levels of carnitine in the body
10. Low levels of glutathione in the body

At this time, there is no cure for CLN2 disease. However, there are medications available to help manage the symptoms and slow the progression of the disease. These medications include enzyme replacement therapy, gene therapy, and other treatments. Your doctor can help you determine the best treatment plan for your individual situation.