What is neuronal ceroid lipofuscinosis?

Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia , vision loss, and epilepsy .

How common is neuronal ceroid lipofuscinosis?

Adult neuronal ceroid lipofuscinoses are extremely rare disorders. The prevalence is estimated to be about 1.5 people per 9,000,000 in the general population.

What is neuronal ceroid?

Neuronal ceroid lipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that result from excessive accumulation of lipopigments (lipofuscin) in the body’s tissues. These lipopigments are made up of fats and proteins.

Is neuronal ceroid lipofuscinosis inherited?

Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down through families (inherited).

Is neuronal ceroid Lipofuscinoses a rare disease?

Neuronal ceroid lipofuscinosis 3 (CLN3-NCL) is a rare condition that affects the nervous system. Signs and symptoms generally develop between age 4 and 8 years, although later onset cases have been reported.

How long can you 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?

Vision loss (this symptom does not affect adults with Batten disease).
Epilepsy (seizures).
Cognitive problems, trouble learning or difficulty keeping up in school.
Problems with speaking.
Clumsiness and issues with coordination, balance and movement.

How rare is Batten’s 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.