How to Treat Batten Disease?

What is Batten Disease?

Batten disease, also referred to as neuronal ceroid lipofuscinosis (NCL), encompasses a group of fatal genetic disorders with profound implications for affected individuals and their families. This group consists of 13 known types, all sharing common symptoms such as seizures, vision loss, and cognitive impairments. The onset of symptoms can occur in babies, children, and teenagers, making it a challenging condition that spans various age groups.

This inherited metabolic disorder results from genetic mutations, leading to a disruption in the normal breakdown and elimination of cellular waste within the body. The affected cells struggle to dispose of proteins, sugars, and lipids (fats), causing an accumulation of these substances. This buildup becomes a major impediment to the proper functioning of the nervous system, ultimately culminating in severe health issues and, tragically, premature death.

Why Batten Disease Occurs?

The root cause of Batten disease lies in genetic mutations that impact enzymes responsible for breaking down lipopigments. These mutations interfere with the normal metabolic processes, leading to the accumulation of lipopigments within cells. This accumulation disrupts cellular function, particularly in neurons, resulting in neurodegeneration. The specific gene mutations involved determine the type of Batten disease, and various forms of the condition have been identified based on these genetic factors.

How Batten Disease Manifests?

Batten disease manifests in a variety of ways, and the specific form and age of onset play crucial roles in its presentation. Early signs often include language difficulties, seizures, and alterations in behavior. As the disease progresses, children with Batten disease may experience a gradual loss of motor skills, vision deterioration, and a decline in cognitive functions. Notably, there is often a regression of acquired skills, leading to severe disability over time.