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What is Batten disease?

Batten disease is a group of fatal genetic disorders. Providers also call this group of disorders neuronal ceroid lipofuscinosis (NCL). There are 13 known types of Batten disease. All types cause many of the same symptoms. These include seizures, vision loss and cognitive (thinking and reasoning) problems. Symptoms can appear in babies, children and teenagers.

Batten disease is an inherited metabolic disorder. It’s passed down through families, and it results from a genetic mutation (gene change). The disorder affects the cells’ ability to break down and get rid of cellular waste. The body can’t dispose of proteins, sugars and lipids (fats), so they build up. This buildup causes problems with the nervous system that eventually leads to death.

There is no cure for Batten disease. Healthcare providers focus on treating symptoms and improving the quality of life for people with the disorder.