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dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive

MONDO:0100098

Overview

A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disability, and only minimal, if any, hyperphenylalaninemia.

Diagnosis

Biomarker and diagnostic research for dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive.

54 publications have been identified in PubMed for dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive. Research spans Case Report / Case Series (28%), Epidemiology / Natural History (20%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	15

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 1:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive

Overview

Diagnosis

Research Landscape

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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