[Niemann-Pick disease type C].

Childhood symptoms of NPC may be first noticed when a child starts going to school and concerns regarding a child’s behaviour are raised. As the disease progresses, children may experience developmental delays, challenges with motor skills (e.g. increased clumsiness and abnormal posturing) and a particular difficulty in making vertical eye movements. Other symptoms of NPC may include: an enlarged liver or spleen, challenges with swallowing, slurred speech, loss of muscle strength, seizures, breathing problems and gradual liver failure. Another particular symptom is episodes of falling with laughter called “gelastic cataplexy” due to a sudden loss of muscle tone.