What is Batten’s Disease?

Batten’s Disease also known as Neuronal Ceroid Lipofuscinosis (NCL) is a rare fatal genetic disorder that primarily affects children. It belongs to a group of disorders called lysosomal storage diseases which occur when the body cannot break down certain fatty substances (lipids) that accumulate in the brain other tissues.

Symptoms of Batten’s Disease

Batten’s Disease can affect individuals differently but the typical symptoms include seizures vision loss cognitive decline behavioral changes motor problems. The signs symptoms of the disease usually start between the ages of 2 10 years they worsen over time.

Types of Batten’s Disease

Batten’s Disease is classified into 14 different types based on the specific genetic mutation that causes it. The most common types are CLN1 CLN2 CLN3 CLN5 CLN6.

CLN1

CLN1 also known as Infantile NCL is the most severe rarest form of Batten’s Disease. The symptoms typically start before the age of 6 months babies with CLN1 often die before the age of 3 years.

CLN2

CLN2 also known as Late Infantile NCL is the most common form of Batten’s Disease. The symptoms usually start between the ages of 2 4 years children with CLN2 often do not survive beyond their teens.

CLN3

CLN3 also known as Juvenile NCL is one of the more common forms of Batten’s Disease. The symptoms typically start between the ages of 4 8 years children with CLN3 often live until their late teens or early twenties.

Diagnosis Treatment of Batten’s Disease

Batten’s Disease is diagnosed through a combination of clinical evaluation imaging studies genetic testing. Unfortunately there is no cure for Batten’s Disease treatment options are limited to supportive palliative care.

Supportive care may involve the use of medication for seizures physical therapy to improve motor function vision aids to improve visual impairment. Palliative care may include symptom management end-of-life care.

Conclusion

Batten’s Disease is a rare devastating disease that currently has no cure. It can severely impact a child’s quality of life lifespan it is important to recognize the signs symptoms of the disease early on. While there may not be a cure supportive palliative care can help to improve the quality of life for children with Batten’s Disease their families.