CLN2 disease

CLN2 disease, also known as Batten disease, is a rare, inherited neurodegenerative disorder that primarily affects children. It is caused by mutations in the TPP1 gene, leading to a deficiency in an enzyme essential for breaking down certain wastes in brain cells. This deficiency results in the buildup of toxic substances, causing progressive brain damage. Symptoms typically include vision loss, seizures, cognitive decline, and motor difficulties. As the disease progresses, it severely impacts quality of life. Unfortunately, there is currently no cure, but some treatments aim to manage symptoms and slow progression.