Dopa-responsive dystonia

Definition:

Dopa-responsive dystonia (DRD) encompasses a clinically and genetically heterogeneous group of disorders that typically manifest as limb-onset dystonia that fluctuates diurnally and improves with levodopa treatment. DRD usually results from genetic defects in enzymes that are involved in the biosynthesis of dopamine. The most common condition is autosomal dominant GTP cyclohydrolase 1 deficiency (Segawa syndrome).

References:

[1]. B Lüdecke, et al. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet. 1995 Jan;95(1):123-5. [Content Brief]

[2]. Subhashie Wijemanne, et al. Dopa-responsive dystonia--clinical and genetic heterogeneity. Nat Rev Neurol. 2015 Jul;11(7):414-24. [Content Brief]

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