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Metachromatic leukodystrophy - Definition


Definition


Metachromatic leukodystrophy, also called Scholz-Greenfield disease, is one of the most common leukodystrophies. It is a hereditary neurodegenerative disease that originates in a deficiency of an enzyme, arylsulfatase A. Metachromatic leukodystrophy usually appears around the age of 2 to 3 years. It causes demyelination, that is to say a reduction of myelin, which plays a role in the transmission of nerve impulses in the central and peripheral nervous system. Metachromatic leukodystrophy is responsible for a loss of motor function including abnormal gait and balance, and cognitive function with mental regression. Progression is currently fatal in a few years.
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