Management

There is no disease-modifying therapy currently available.

Management is supportive and includes:

Neurological care:
•    Anti-seizure medications for epilepsy
•    Management of spasticity and movement disorders
•    Brain MRI to follow disease progression

Developmental care:
•    Physical, occupational, and speech therapy

Nutritional care:
•    Feeding support; gastrostomy if needed
•    Monitoring

Metabolic:
•    Measurement of polyols (diagnostic; limited role in monitoring)

Genetic counseling:
•    Autosomal recessive inheritance with 25% recurrence risk

No targeted metabolic therapies have been validated. The pathogenic role of polyol accumulation remains uncertain, with some data suggesting it may not be the sole driver of neurotoxicity.