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. Most people with Batten disease die in their teens or early twenties.

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 is estimated to affect 1 in every 50,000 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.

Symptoms

As the disorder progresses, loss of muscle control, severe brain tissues, atrophy of brain tissues, progressive loss of sight, and early dementia take place.

Diagnosis

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 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

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. Recently, 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. Very recently, the drug antisense oligonucleotide (milasen) is believed to be first custom treatment for a genetic disease.

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.