Batten Disease

Batten disease is a group of rare inherited neurodegenerative conditions, also known as neuronal ceroid lipofuscinoses, that cause progressive loss of vision, seizures, and decline in thinking and movement in children.

Common symptoms

Loss of vision that worsens over time, seizures, changes in behaviour and learning, clumsiness, stiffness, and loss of previously learned skills.

Description

Batten disease refers to a group of related inherited conditions in which a build-up of waste material damages cells in the brain, retina, and other tissues. Different forms start at different ages and progress at different rates.

Vision loss is often one of the earliest features, particularly in the juvenile form, where children may first notice difficulty reading or recognising faces. Over time, seizures, behavioural changes, and loss of walking and talking skills develop, and the condition is sadly life-limiting.

There is no cure for most forms, but a specific treatment is available for one type (CLN2 disease). Care is shared between neurology, paediatric teams, ophthalmology, and specialist palliative care, with education, family, and community support playing a vital role throughout.