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Leukodystrophies

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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This is a group of diseases of degeneration of white matter which are characterised by dysmyelination rather than demyelination.

Where the defect has been characterised, there is a deficiency in a lysosomal enzyme involved in the metabolism of myelin.

The disorders are usually apparent in childhood. Global neurological dysfunction, dementia and death is the usual course.


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