What is Batten disease?
Batten disease is a group of fatal genetic disorders. There are 13 types. The disorder affects the body’s ability to get rid of cellular waste (lipids and proteins), so they build up in cells all over the body. The buildup causes seizures, vision loss, problems with thinking and movement, and eventually, death.
What are symptoms of Batten disease?
Juvenile NCL (Batten Disease) begins between the ages of 5 and 8. The typical early signs are progressive vision loss, seizures, ataxia or clumsiness. This form progresses less rapidly and ends in death in the late teens or early 20s, although some may live into their 30s.
Is Batten disease dementia?
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.
How does Batten disease happen?
Batten disease is caused when both copies (one from each parent) of the specific gene causing the disease are defective. This is known as autosomal recessive disease. People who only have one defective copy (carriers) will not develop symptoms and are usually unaware of their carrier condition.
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.
Are you born with Batten disease?
Each form is caused by a mutation in a different gene. 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.
What are the symptoms of Batten disease?
The symptoms and onset of Batten disease can differ from person to person. The most common first symptom of the disease is loss of vision, followed by seizures.
Can Batten disease be prevented?
Batten disease cannot be prevented. It is an inherited nervous system disorder. There are reports that taking vitamin C and E, combined with a low diet in vitamin A , may somewhat delay the disease’s progress. However, taking these vitamins has not been known to prevent the fatal effect of Batten disease.
What is infantile Batten disease?
Also known as infantile neuronal ceroid lipofuscinosis (INCL), infantile Batten disease is a rare lysosomal storage disease of the nervous system that is caused by autosomal-recessive mutations in the CLN1 gene. It primarily affects the nervous system in newborns, and progresses rapidly.