Batten disease, also known as neuronal ceroid lipofuscinosis, is a group of genetic diseases where cells cannot filter out waste in the brain and eyes. Over time, it causes seizures, vision loss, and cognitive (thinking) problems.
It is fatal. This means that it will not get better and affected individuals will end up dying from it. This is called a terminal illness. Batten Disease can affect babies, children and, rarely, adults.
It gets worse as time goes on. It is called a type of childhood dementia because children with it lose skills they have already learnt. They will experience loss of speech, personality changes, clumsiness, myoclonus (jerking of limbs) and episodes of psychosis (being out of touch with reality) similar to an old person with Alzheimer's disease.
Types of Batten Disease
There are 14 types of Batten disease. The most common is CLN3. Symptoms of CLN3 usually happen in ages 5 to 15. There are other types of Batten disease, such as:
CLN1
This happens because a change in the enzyme PPT1. It was first found in Finland during the 1970s.
Babies with CLN1 develop normally until their 1st year. Their development (how they grow) will slow down and eventually stop. They might have trouble sleeping and become restless. They also develop repetitive hand movements like fiddling or flapping their hands. They often become floppy if they are held. They might not be able to hold up their head.
By 2 years of age, they might have epilepsy. Their vision will get worse until they become fully blind. They may not know how to communicate anymore and avoid social interaction. They may not be able to play normally and have trouble understanding.
By the age of 3 years, they are always being taken care of and cannot do much for themselves. They may need a feeding tube. Their arms and legs will get stiff (not be able to move). Unfortunately, children with CLN1 Batten disease die by early childhood.
CLN2
This happens because of a broken CLN2 gene. It was discovered in 1998. Life expectancy is between 8 and 12 years of age.
