Leukodystrophy

Leukodystrophies are a heterogeneous group of inherited disorders affecting myelin formation or maintenance. Clinical manifestations include developmental regression, motor deficits, spasticity, and cognitive impairment. Pathophysiology involves genetic mutations affecting enzymes, structural proteins, or transport mechanisms necessary for white matter integrity. Diagnosis relies on MRI demonstrating demyelination and genetic testing. Management is largely supportive, with emerging therapies including enzyme replacement, gene therapy, and hematopoietic stem cell transplantation; prognosis depends on specific subtype and early intervention.