Cause of batten disease
OVERVIEW 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. Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy 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. SYMPTOMS AND CAUSES 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.