How common is Batten disease?
It is not known how many people have Batten disease, but by some estimates it can be as frequent as in 1 in 12,500 people in some populations. It affects an estimated 2 to 4 out of every 100,000 children in the United States.
How long can you live with Batten’s 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.
Does Batten disease run in families?
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.
Is Batten disease always fatal?
Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Juvenile Batten Disease become blind, bedridden, and unable to communicate. Juvenile Batten Disease is always fatal by the late teens or twenties.
Can Batten disease be misdiagnosed?
Batten disease is often misdiagnosed, because it’s rare and many conditions share some of the same symptoms. Since vision loss is usually one of the earliest signs of the disease, eye doctors can be the first ones to suspect a problem.
Why is it called Batten disease?
History. Batten disease is named after the British pediatrician Frederick Batten, who first described it in 1903. Also known as Spielmeyer-Vogt-Sjögren-Batten disease, it is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (NCL).
What are treatments for Batten disease?
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.
How does Batten disease affect the nervous system?
The symptoms of Batten disease are caused by the buildup of fatty substances called lipopigments in the body’s tissues. As these substances accumulate, they cause the death of cells called neurons in the brain, retina and central nervous system.
How do you test for Batten disease?
The only sure way to diagnose Batten disease is through genetic testing. To perform a genetic test for Batten disease (or other genetic condition), the patient’s DNA is purified from a blood sample. The DNA is then sequenced – where the exact DNA sequence of the gene is determined.
When is Batten disease diagnosed?
Batten disease is a fatal, inherited disorder of the nervous system that typically begins in childhood. Early symptoms of this disorder usually appear between the ages of 5 and 10 years, when parents or physicians may notice a previously normal child has begun to develop vision problems or seizures.
What kind of disease is called Batten disease?
Other terms in Scandinavian countries included Vogt-Spielmeyer-Sjogren disease. Recently, families, clinicians and researchers have begun to prefer the use of the term Batten disease to collectively describe all types of neuronal ceroid lipofuscinoses.
What happens to a child with Batten disease?
Prognosis Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and have dementia. Children with Batten disease have a greatly shortened life expectancy.
Which is the juvenile onset form of Batten disease?
Although “Batten disease” originally referred specifically to the juvenile-onset form of NCL, the term Batten disease is increasingly used to describe all forms of NCL. Most forms of Batten disease/NCLs usually begin during childhood.
Are there any new drugs for Batten disease?
NIH researchers have identified a potential new drug to treat infantile Batten disease that uses a non-toxic molecule to prevent the harmful cellular residue buildup. Among other research, scientists are looking at the development of new molecules to treat Batten and a variety of neurological disorders.