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Batten disease

What are the symptoms?

Symptoms include loss of vision, epilepsy and loss of abilities including walking, eating and talking.  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. Nine genes are known to cause Batten disease to date. The types of Batten disease are often classified by age of onset:

Infantile - onset between six months and two years. Death can occur in mid-childhood.

Late Infantile - onset between two and four years. Death can occur between the ages of five and fifteen.

Juvenile - onset between five and nine years. Death can occur at any time from the late teens to the mid-thirties.

Adult - onset normally before the age of forty. Shortened life expectancy.

View Background Background  |  How is it treated? View How is it treated?

Medical text written January 2008, Batten Disease Family Association. Approved January 2008 by Dr Ruth Williams, Consultant Paediatric Neurologist, Guy's Hospital, London, UK and Sara Mole, Reader in Molecular Cell Biology, University College London, UK.

 

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