Problem

Neuronal ceroid lipofuscinosis

Other Names:
NCLs
Spielmeyer-Vogt-Sjogren-Batten disease
Batten's disease
Inherited metabolic storage diseases concerning proteins
Nature:
Childhood NCLs are autosomal recessive disorders; that is, they occur only when a child inherits two copies of the defective gene, one from each parent. Adult NCL may be inherited as an autosomal recessive (Kufs) or, less often, as an autosomal dominant (Parrys) disorder. In all cases, symptoms of neuronal ceroid lipofuscinosis (NCL) are linked to a buildup of substances called lipopigments in the body's tissues. Batten disease is the most common form of this group of disorders. They strike without warning, affecting vision and causing seizures or convulsions.
Incidence:
There are four main types of NCL, including two forms that begin earlier in childhood and a very rare form that strikes adults. The symptoms are similar but they become apparent at different ages and progress at different rates.
Aggravates:
Seizures
Convulsions
Problem Type:
G: Very specific problems
Related UN Sustainable Development Goals:
GOAL 3: Good Health and Well-being
Date of last update
26.06.2018 – 05:39 CEST