Leukodystrophy


Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:


Definition

The term leukodystrophy is used to refer to disease of the white matter of genetic origin.

These disorders fall within the broader class of white matter diseases.




Taxotomy

Aetiology

Supercategory
White matter disease
Disorder Clinical features Associated features Investigations Disease modifying treatment available Time critical
X-linked adrenoleukodystrophy Adrenomyeloneuropathy
Alexander disease
Metachromatic leukodystrophy
Canavan disease
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Pelizaeus-Merzbacher disease



Investigations


Cases can be referred to the Queen Square Adult Leukodystrophy Group for a specialist opinion.


Laboratory Investigation Result