Autosomal recessive dopa-responsive dystonia

Autosomal recessive dopa-responsive dystonia is a rare neurometabolic disorder characterized by a broad spectrum of symptoms ranging from dystonia to infantile encephalopathy.

The disease manifests itself usually already in the first year of life by a progressive hypokinetic-rigid syndrome with generalized dystonia. In addition patients suffer from posture tremors and walking problems, whose severity varies over the course of a day.

Heavier forms are preceded by complex encephalopathy in the first 6 months of life. Often, there is also an intellectual deficit and a delayed motor development. 

The cause of the disease are mutations in the tyrosine hydroxylase gene, whose gene product catalyzes the conversion of L-tyrosine to L-dopa and is therefore essential for dopamine production.