What is CLN2 disease?
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).
Can you survive Batten disease?
Patients with this type usually do not survive beyond age five. The onset of late infantile Batten disease is between ages two to four. The life expectancy is between ages eight to 10. Juvenile Batten disease occurs in children between ages five and 10.
What is TPP1?
The TPP1 gene provides instructions for making an enzyme called tripeptidyl peptidase 1. This enzyme is produced as an inactive enzyme, called a proenzyme, which has an extra segment attached. This segment must be removed, followed by additional processing steps, for the enzyme to become active.
How long do people live 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 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 Batten disease?
Batten disease. Batten disease is a fatal disease of the nervous system that typically begins in childhood.
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.