What is Batten Disease?

Batten disease, or Neuronal Ceroid Lipofuscinosis (NCL), is a family of rare diseases caused by autosomal recessive genetic mutations resulting in the body.

These genetic mutations disrupt the cells' ability to dispose of wastes. Cells are thrown out of balance with the build-up of proteins and lipids (fats). There are 14 known forms of Batten disease and you will often hear them referred to as CLN1-CLN14. It is estimated that 2-4 births per 100,000 in the U.S. are affected by Batten disease, though some researchers in the field suggest these numbers are low.

Gairs in Field

Every year, hundreds of children and their families cope with the diagnosis of Batten disease with strength, courage and commitment.

Children and adults with this rare neurodegenerative disorder have inherited genetic material from their parents that after some years, begin to impact their daily lives. When it does, families are often in shock when they experience their seemingly normal child changing (sometimes quickly) and without cause. Regardless of where your loved one is in the progression of Batten disease. We want you to know that there are many families around the world just like yours who want ot share experiences with you.

Patients with Batten disease suffer progressive neurological impairment because of their damaged cells.

Symptoms like visual impairment and seizures are among the difficulties they will face. Because of widely varying genetic mutations, the disease can look differently in each person. While the symptoms of Batten Disease may vary tremendously for each child or adult, there is some overlap and common paths for diagnosis.

Strides are continually being made in research. Many different efforts are in development with the goal of improving quality of life, and making progress with treatments and cures for various forms of the disease. BDSRA’s work in this area includes funding and facilitating scientific research at multiple steps throughout the drug development process. We are a transparent, patient-driven voice and advocate. Families, with all forms of the disease, are our primary focus. Working together as a united voice, we elevate the impact of the Batten community in North America and beyond.

Pereuyo Miquel and Nicholas
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Symptoms & Diagnosis

The diagnostic journey and presentation of symptoms will be unique to each child. Many similar experiences, however, are shared and the following section will shed light on some of these commonalities.


Types of Batten Disease

There are currently 14 identified forms of Batten disease. Because of widely varying genetic mutations, the arc of Batten disease can vary tremendously for each person.  Here, we provide detailed information about the different types of the disease from experts in the field.

Research_Treatments_Kielian and Olivia

Research & Treatments

BDSRA is dedicated to finding treatments and a cure for Batten disease. Our research grants support scientists worldwide pursuing basic and applied research, fostering partnerships and facilitating innovative discoveries.

What Next?

Newly Diagnosed

If you are a newly diagnosed family, we welcome you to connect with BDSRA further and request a new family packet with additional information and resources available.

Family Support Services

We offer direct support services, guidance navigating difficult systems and can help you connect to other families and experts in the field.

Annual Family Conference

Hundreds of family members, children and researchers gather each year to learn about patient care, education, and the latest in science.

Help Our Mission

Whether its advocacy or financial support, there are many ways to join us and strengthen our community working together toward a common goal.

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