What is Batten disease caused by?
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.
Is there a cure for juvenile Batten disease?
There currently is no cure for juvenile Batten disease. Thus, available treatments focus on easing its symptoms. Seizures can be controlled with anticonvulsants. Because the types of seizures change over time, patients usually receive more than one kind of anticonvulsant over the course of their disease.
How is Batten disease treated?
The only treatment approved by the U.S. Food and Drug Administration to treat Batten disease is Brineura (cerliponase alfa), an enzyme replacement therapy designed to slow the loss of walking ability in children with a type of Batten disease called CLN2.
What is cnl2 Batten disease?
Collapse Section. CLN2 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia).
What is the life expectancy of someone with Batten disease?
Children with Batten disease have a greatly shortened life expectancy. Children with infantile Batten disease often die in early childhood. Children with later onset forms of the disease may live into their teens to thirties, while those who develop the disease in adulthood may have a normal life expectancy.
What is infantile Batten disease?
Infantile Batten disease is a severe subtype of Batten disease, a progressive and inherited disorder of nervous system that’s also known as neuronal ceroid lipofuscinoses (NCL).
What are the NCLs or Batten disease?
Commonly referred to as Batten disease, the Neuronal Ceroid Lipofuscinoses (NCLs) denote several different genetic life-limiting neurodegenerative diseases that share similar features. Although the disease was initially recognised in 1903 by Dr Frederik Batten, it wasn’t until 1995 that the first genes causing NCL were identified.
What happens to a child with Batten disease at 3?
These children may never learn to speak or walk, or may lose such ability as they age. As the disease progresses, they usually experience progressive vision loss and reduced muscle coordination (ataxia). Children with infantile Batten can become completely dependent by age 3, unable to communicate or feed themselves.
What are the different types of Batten disease?
Batten disease has several types, generally classified by the gene involved and the age at which symptoms start. Infantile Batten disease, with symptom onset generally in infancy or toddler years, may also be referred to as CLN1 disease, Santavuori-Haltia disease, or infantile NCL.