Batten Disease synonyms

Batten Disease, also known as neuronal ceroid lipofuscinosis (NCL), is a rare and devastating genetic disorder that primarily affects children. It is characterized by the progressive degeneration of nerve cells in the brain and other parts of the body. This condition is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected.

Symptoms of Batten Disease

The symptoms of Batten Disease usually appear between the ages of 5 and 10, although they can sometimes manifest earlier or later. The initial signs may vary, but typically include vision problems, such as difficulty seeing in dim light or loss of peripheral vision. As the disease progresses, affected individuals may experience seizures, cognitive decline, behavioral changes, and motor impairment. These symptoms worsen over time, leading to severe disability and ultimately premature death, often in the late teens or twenties.

Types of Batten Disease

Batten Disease encompasses a group of disorders, each caused by a specific genetic mutation. The most common forms include:

• CLN1 disease (infantile Batten Disease): This form typically begins in infancy and is characterized by rapid and severe neurological deterioration.


• CLN2 disease (late infantile Batten Disease): This is the most common form, with symptoms appearing between ages 2 and 4. It leads to progressive cognitive and motor decline.


• CLN3 disease (juvenile Batten Disease): Symptoms usually start between ages 4 and 8, causing vision loss, seizures, and cognitive decline.

Diagnosis and Treatment

Diagnosing Batten Disease involves a combination of clinical evaluation, genetic testing, and specialized laboratory tests. Unfortunately, there is currently no cure for this condition. Treatment mainly focuses on managing symptoms and providing supportive care to improve the individual's quality of life. This may involve medications to control seizures, physical and occupational therapy to maintain mobility, and educational interventions to support cognitive function.

Research and Support

Scientists and medical professionals are actively engaged in research to better understand Batten Disease and develop potential therapies. Various organizations and support groups also exist to provide resources, advocacy, and emotional support to affected individuals and their families.