What is Batten Disease?

The group of diseases known as Batten Disease (after the British paediatrician who first described it in 1903) or the neuronal ceroid lipofuscinoses (NCLs) are rare, genetic, progressive neurodegenerative, metabolic diseases that occur in children and adults worldwide. Symptoms include loss of vision, epilepsy and loss of abilities including walking, eating and talking. Our understanding of Batten Disease is improving all the time and work to develop new therapies is progressing well. However at present there is no cure or treatment that makes a significant impact on the progressive decline in bodily functions and inevitable early death. 

A number of different forms of Batten Disease, including less common variants and a congenital form, are known. These share similar symptoms but progress at different rates and are all genetically different. It is important to know which gene mutation causes the disease in each individual. The types of Batten Disease are often classified by age of onset:

Juvenile - onset between 5 and 9 years, characterised by developmental regression, leading, amongst other things, to vision loss, seizures, loss of motor abilities and dementia. Death normally occurs any time from the late teens to the mid -30s.

For an overview of what we know about it causes, management and treatment, please download our Juvenile Batten Disease Information Leaflet or Email bdfa.info@btinternet.com for a hard copy to be posted to you.

For support and further information, please contact the BDFA Helpline on 0115 965 4815 or email bdfa.info@btinternet.com. We will do our very best to help you, to give you information and confidence to manage the future and provide quality of life for your child and your family.