Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
HPD with diurnal fluctuation; Hereditary progressive dystonia with diurnal fluctuation; DYT-GCH1 (subtype);
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Another form of DRD is due to a rare condition called sepiapterin reductase deficiency, which is
A third form of DRD is autosomal recessive DRD, also called tyrosine hydroxylase deficiency. This form is characterized by a spectrum of symptoms, ranging from those seen in the
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
If DRD is suspected, a therapeutic trial with low doses of levodopa remains the most practical approach to the diagnosis. It is generally agreed that people with childhood-onset dystonia of unknown cause should be treated initially with levodopa. The characteristic symptoms and response to treatment are sufficient to establish the diagnosis for people with the most common form, autosomal dominant DRD. There is only one
For tyrosine hydroxylase deficiency, an
For sepiapterin reductase deficiency, a very rare autosomal recessive form of DRD, there are distinctive findings in CSF and reduced or absent activity of sepiapterin reductase in
The major conditions that may have a similar presentation to DRD and are part of the
People with specific questions about being evaluated for any form of dystonia should speak with a
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Genetics Home Reference (GHR) contains information on Dopa-responsive dystonia. This website is maintained by the National Library of Medicine.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Dopa-responsive dystonia. Click on the link to view a sample search on this topic.
- Nirjal K Nikhar. Dopamine-Responsive Dystonia. Medscape. October 16, 2014; https://emedicine.medscape.com/article/1181084-overview.
- Dopa-responsive dystonia. Genetics Home Reference. May, 2012; https://ghr.nlm.nih.gov/condition/dopa-responsive-dystonia.
- Christoph Kamm. Dopa-responsive dystonia. Orphanet. November, 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255.
- Christoph Kamm. Dopa-responsive dystonia due to sepiapterin reductase deficiency. Orphanet. November, 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594.
- Christoph Kamm. Autosomal recessive dopa responsive dystonia. Orphanet. November, 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150.
- Yoshiaki Furukawa. GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. GeneReviews. March 5, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1508/.
- Yoshiaki Furukawa. Tyrosine Hydroxylase Deficiency. GeneReviews. July 17, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1437/.