Niemann-Pick disease type C

It mainly affects school-age children but can occur at any time, from early infancy to adulthood. It is caused by an inherited inability to deal with cholesterol and other fats, causing them to accumulate in cells, including those in the brain. This can lead to progressive loss of movement and difficulties with walking and swallowing.

People who first show symptoms in late adolescence or early adulthood are more likely to experience dementia as part of the disease. The dementia symptoms include confusion, memory problems and difficulties in concentrating and learning.

There is currently no treatment for the disease, and life expectancy varies. However, researchers have identified the responsible gene and there is continuing research into this area.