Batten Disease

Batten disease, or neuronal ceroid lipofuscinoses (NCLs), is a group of rare, fatal, inherited disorders affecting the central nervous system. These disorders result from genetic mutations that disrupt a cell's ability to recycle certain molecules, leading to symptoms like vision loss, seizures, cognitive decline, and motor impairment. The disease has various forms, each caused by a different gene mutation, with symptoms appearing at different ages. Over time, affected individuals become blind, lose motor and cognitive abilities, and require full-time care. There is no cure, though a treatment for CLN₂ disease has been approved by the Food and Drug Administration.