An Overview of Batten Disease

Batten disease is an extremely rare and fatal disorder that affects the nervous system. Most children begin to show symptoms between five and ten years old, when a previously healthy child may begin to exhibit signs of seizures or vision issues.

In many cases, the early signs are very subtle, such as clumsiness, learning impairment, and worsening vision. The life expectancy for Batten disease is rather short. Most people with Batten disease die in their teens or early twenties.

This article covers what batten disease is, what signs and symptoms occur, and how this disease is diagnosed. It also explains what can be done for treatment and why Batten disease is fatal.

What Is Batten Disease?

Batten disease is the most common of neuronal ceroid lipofuscinoses (NCLs). Originally, Batten disease was considered to be a juvenile NCL, but in recent years, pediatricians have used the Batten disease to describe most incidences of NCL.

Batten disease is extremely rare. It usually starts in childhood, but in very rare cases it can start in adulthood too.

It is estimated to affect two to four in every 100,000 births in the United States. While cases do occur worldwide, Batten disease is more common in parts of northern Europe, such as Sweden or Finland.

Batten disease is an autosomal recessive disorder, meaning that it only occurs in a child if both parents carry the genes for the disease. If a child has only one parent with the gene, that child is considered a carrier and may pass the gene on to his own child, causing Batten disease if his partner carries the gene as well.

In people with Batten disease, the brain's cells are not able to remove a waste product called lipofuscin. Eventually, the waste product builds up, leading to the death of brain cells. At some point, the body's functions shut down, resulting in the death of the patient.

What Are the Symptoms of Batten Disease?

In the first few years of life, children with Batten disease may develop normally without any symptoms, but at some point symptoms will occur. Not everyone with Batten disease will have every symptom, and the rate at which symptoms progress will be different for everyone.

Symptoms seen in people with Batten disease include:

• Progressive vision loss eventually leading to blindness
• Seizures
• Cognitive decline and dementia
• Problems with movement
• Personality and behavior changes
  

How Is Batten Disease Diagnosed?

Because the earliest signs of Batten disease typically involve vision, Batten disease is often first suspected during a routine eye exam. However, it cannot be diagnosed through an eye exam alone.

Batten disease can be difficult to diagnose accurately. Sometimes a child can be incorrectly diagnosed as having seizure disorder or autism.

Batten disease is diagnosed based on the symptoms the child is experiencing. Parents or the child's pediatrician may notice that the child has begun to develop vision problems or seizures. Special electrophysiological studies of the eyes, such visual-evoked response or electroretinogram (ERG), may be done.

In addition, diagnostic tests such as electroencephalogram (EEG, to look for seizure activity) and magnetic resonance imaging (MRI, to look for changes in the brain) may be done. A sample of skin or tissue (called a biopsy) may be examined under a microscope to look for the buildup of lipofuscins.

Treatment for Batten Disease

No specific treatment is yet available to cure or slow the progression of Batten disease, but treatments do exist to manage the symptoms and make the child more comfortable. Seizures can be controlled with antiseizure medications, and other medical problems can be treated as needed.

Physical and occupational therapy can help the patient hold on to physical functioning as long as possible before the muscles atrophy. Some studies have shown early data that doses of Vitamin C and E can help slow the disease, though no treatment has been able to stop it from being fatal.

The FDA approved medication called cerliponase alfa (Brineura), which is offered to a specific type of Batten disease. Brineura is able to slow loss of walking ability in some children.

Genetic sequencing may be able to help people with Batten disease in the future. Possible treatment avenues are being studied, including the drug antisense oligonucleotide (milasen).

The life expectancy for Batten disease varies depending on the person's age when it started. An infant diagnosed with Batten disease between the ages of six months to two years may live to mid-childhood. Someone who gets Batten disease between the ages of five to 10 years may live until their teens or early 20s.

Support groups such as the Batten Disease Support and Research Association provide support and information on treatments and research. Meeting other families who have gone through the same thing or are going through the same stages can be a great support while coping with Batten disease. Medical research continues to study the disorder to hopefully identify effective treatments in the future.

Summary

Batten disease is a rare and fatal genetic disease that affects the nervous system. It results in the build-up of waste in the brain, leading to the death of brain tissue.

Progressive vision loss, seizures, cognitive decline, and loss of motor skills are symptoms that people with Batten disease may experience. While there is no specific treatment to cure Batten disease, there are treatment options that may be able to slow progression.

Talk to a healthcare provider or pediatrician if you recognize the symptoms of Batten disease. Healthcare providers can check for more common causes of Batten disease symptoms like seizures and get you the right treatment for your condition.