Batten Disease

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.

How common is Batten disease?

Healthcare providers estimate that Batten disease affects about 3 of every 100,000 births in the United States. People of Scandinavian or Northern European descent are more likely to have the disorder. In Northern Europe, about 1 of every 25,000 babies is born with Batten disease. Siblings of children with Batten disease have a 25% chance of having the disorder.

What are the types of Batten disease?

Researchers and healthcare providers have identified 13 types of Batten disease. Providers classify the different types based on the age symptoms begin and the gene that has the change. Symptoms may begin in infancy, late infancy, childhood or the early teenage years.

Very rarely, adults can develop symptoms (usually around age 30). All types of Batten disease are fatal except adult Batten disease. People who develop symptoms of Batten disease as adults have a normal life expectancy.

The name for each type of Batten disease starts with “CLN.” This stands for ceroid lipofuscinosis, neuronal — the name of the affected gene. The name ends with a number from 1 to 14. The most common type of Batten disease is CLN3 (juvenile Batten disease). Symptoms of CLN3 usually begin between ages 5 to 15.

What are the symptoms of Batten disease?

All types of Batten disease share many of the same symptoms, but they may begin at different ages. Babies and children with Batten disease grow and develop normally for a period of time. They meet developmental milestones, such as crawling, walking, talking and feeding themselves. But then they stop progressing and begin to decline. They lose any skills they’ve learned and develop symptoms. These symptoms usually worsen quickly.

Symptoms vary from person to person. The first signs of Batten disease include:

• Vision loss (this symptom does not affect adults with Batten disease).
• Epilepsy (seizures).
• Cognitive problems, trouble learning or difficulty keeping up in school.
• Problems with speaking. This includes speech delays, stuttering and repeating words or phrases several times.
• Clumsiness and issues with coordination, balance and movement.

Other signs appear later, or they may overlap with the first symptoms. They include:

• Tremors, tics, muscle spasms and myoclonus (abnormal muscle twitches).
• Changes in mood, behavior or personality.
• Dementia.
• Hallucinations and episodes of psychosis (being out of touch with reality).
• Sleep disturbances.
• Muscle spasticity and rigidity (muscles that are always tight or flexed).
• Weakness in the limbs, which progresses into paralysis.
• Heart problems, such as arrhythmia (in teenagers and young adults).

What causes Batten disease?

Batten disease is a genetic disorder. It’s inherited (passed down through families). It only happens when both parents are carriers of a gene with a mutation (mistake). For a baby to be born with Batten disease, both parents must pass along a copy of the faulty gene.

The gene that causes Batten disease affects the body’s ability to break down and dispose of cellular waste. Lipids (fats), sugars and proteins build up in cells all over the body. They especially affect the brain cells. The buildup causes the body to stop working properly.

How do healthcare providers diagnose Batten disease?

To diagnose Batten disease, your provider will examine your child. They will also ask about symptoms and family history. Your provider may:

• Order a DNA test: Your provider collects a sample of blood or saliva from you or your child and sends the sample to a lab for testing. The lab studies the DNA for mutations (changes) in certain genes. A DNA test is the only way to confirm a Batten disease diagnosis.
• Take a biopsy: Providers take a sample of tissue (usually from the skin) and look at it under a microscope. Your provider looks for abnormally large collections of lipofuscins. Lipofuscins are yellowish-brown deposits of fats and proteins that build up in the skin and other tissues.
• Do an eye exam: To check the health of the retina and optic nerve, your provider does a test called electroretinography (ERG). The test measures how the retina responds to light. The retina is at the back of your eye. It receives light and sends information to your brain.

Can Batten disease be treated?

Currently, there is only one FDA-approved treatment. It’s only for children with CLN2. Children receive infusions of a medicine called cerliponase alfa (Brineura®) every two weeks. Providers inject the medicine directly into the fluid surrounding the child’s brain. The medicine slows down the loss of the ability to crawl or walk (ambulation). However, it does not slow down other symptoms of the disorder.

Researchers are studying many promising treatments for Batten disease. These include medications, stem cell transplants and gene therapy to replace the faulty gene. Until other treatments for Batten disease are available, healthcare providers focus on treating the symptoms of the disorder.

Children with Batten disease often have a team of providers to address the many symptoms. Your team of providers may prescribe medications to control seizures or drugs to prevent hallucinations. Physical therapy and occupational therapy can help relieve muscle spasticity in some children and retain mobility for a longer time.

Can I prevent Batten disease?

It isn’t possible to prevent Batten disease. If you have a family member or child with the disorder, talk to your provider about genetic counseling. Before you get pregnant, you may choose to get a DNA test to see if you and your partner both have the gene that causes Batten disease. This information can help you when you're planning a family.

What is the outlook for people with Batten disease?

Batten disease is a fatal disorder. Babies and children with the disorder have symptoms that get progressively worse over weeks, months or years. Eventually, they become blind and are unable to communicate, walk, sit independently and interact with others.

Each type of the disease may progress at a different rate. If a child develops symptoms around age 10, they may live until their early 20s. Younger children usually do not live more than five or six years after symptoms begin. The earlier symptoms appear, the shorter the lifespan.

People with adult Batten disease usually have more mild symptoms. Adult Batten disease does not shorten life expectancy.

When should I see my healthcare provider about Batten disease?

If you or your child has signs of Batten disease, see your provider right away. Early diagnosis can greatly improve the quality of life of children and adults with the disorder.

Signs of Batten disease are similar to other disorders and diseases. It’s essential to see your provider for an evaluation.

If you have a family member with Batten disease, talk to your provider about genetic counseling before you have children. A DNA test can tell if you and your partner both have the gene that causes the disorder.

A note from Cleveland Clinic

If your child has Batten disease, ask your provider about joining a support group or network of other parents who have children with the disorder. Sharing your experiences and learning from others can be incredibly helpful and comforting. As you care for a child with a fatal disorder, it’s important to remember that you are not alone. Although there is no cure for Batten disease, researchers are continually working to develop treatments. Healthcare providers are studying multiple promising medications that can slow the progression of symptoms and improve your child’s quality of life.