Disease

Dopa-responsive dystonia due to tyrosine hydroxylase deficiency1, 2

Gene

TH

Inheritance AR
Current Treatments Levodopa combined with a decarboxylase inhibitor
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test CSF neurotransmitter metabolites and pterins1
Disease Frequency (per 100,000) 0.7253, 4
Genes Included in Disease Frequency TH, GCH1, SPR
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Dopa+Responsive+Dystonia&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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