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.
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).
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).
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.
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.
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