Neuronal ceroid lipofuscinosis 8 |

Neuronal ceroid lipofuscinosis 8 |
Neuronal ceroid lipofuscinosis 8 |

Neuronal ceroid lipofuscinosis 8 (NCL 8) is a metabolic disease. This disease causes more and more nerve cells to die. A person then suffers damage to the brain, among other things. The cause is an abnormality in a gene.

Due to damage to the brain, people are experiencing increasing problems with, for example, learning, talking and moving.
Children can no longer do what they had previously learned. They may have ataxia and experience rapid, jerking muscle movements without anyone’s intention. That’s called myoclonus. People often develop epilepsy and vision problems. They may start to behave differently.

There are different forms of NCL 8.
For example, there is a form that also ‘Nordic epilepsy‘ or ‘progressive epilepsy with mental retardation‘ is called. This is a less severe form that is more common in Finland. ‘Nordic epilepsy’ usually starts when children are between 5 and 10 years old.
Another form is more common in Turkey. This form is also called ‘late infantile neuronal ceroid lipofuscinoscalled e’. This form usually starts when children are between 2 and 7 years old.

Many children with NCL 8 die in childhood or as young adults. People with ‘Nordic epilepsy‘ often live to be about 60 years old.

NCL 8 is a form of neuronal ceroid lipofuscinosis.

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The article is in Dutch

Tags: Neuronal ceroid lipofuscinosis Erflijkheid .nl


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