autosomal dominant dopa-responsive dystonia - Symptoms, Causes & Research | Kisho | Kisho

autosomal dominant dopa-responsive dystonia

Rare Disease

MONDO:0971063

A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at ...

Genes

Clinical Trials

1 total

Newborn Screening

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Patient Groups

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Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Last reviewed: Feb 2026

Evidence base: Early

Associated Genes

2 genes

NR4A2 GCH1

Gene data from HGNC • Click to view on NCBI Gene

Associated Genes

2 genes

NR4A2 GCH1

Gene data from HGNC • Click to view on NCBI Gene

Overview

Limited structured data is available for this condition. Information continues to be gathered as research progresses.(4 data sources · Data coverage: Limited)

Overview

autosomal dominant dopa-responsive dystonia is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Symptoms & Signs

This disorder is characterized by childhood-onset dystonia that responds dramatically to low doses of levodopa (L-dopa). It may also be associated with parkinsonism in older age. Current data does not provide information on associated genes, inheritance patterns, or known symptoms.

Prognosis & Outlook

Patients and caregivers are encouraged to seek consultation with specialists experienced in movement disorders. Genetic counseling may be beneficial for understanding the hereditary aspects of this condition. Connecting with rare disease registries and online patient communities can provide additional support and resources.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

2 genes

NR4A2 GCH1

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

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Data from ClinicalTrials.gov Jan 6, 2026

Support

External Resources

Orphanet

European rare disease database

Orphanet:98808

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AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.

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autosomal dominant dopa-responsive dystonia

Patient-Friendly Information

Associated Genes

Associated Genes

Overview

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Clinical Trials

Support

External Resources

Orphanet

Related Diseases

Know a Patient Advocacy Group for this condition?

Need this data in your product?