PhenomeGene — Human Disease Gene Website SeriesTH

Management

Levodopa is often an effective treatment. Type A, onset in infancy or early childhood, characterized by mild, progressive hypokinetic-rigid syndrome with dystonia, typically recovering well with L-dopa treatment, and Type B, which manifests in neonates with a complex encephalopathy, severe symptoms, and a moderate or poor response to L-dopa treatment.