Dopa-responsive dystonia, also known as dopa-responsive dystonia or DRD, is a rare neurological condition that is primarily inherited through genetic factors. In most cases, this condition is caused by a mutation or a deletion in the GCH1 gene, which affects the production of dopamine in the brain. Dopamine is a neurotransmitter that plays a crucial role in regulating movement, among other functions.

Patients with dopa-responsive dystonia typically experience a variety of clinical features, including dystonia, which is characterized by involuntary and often painful muscle movements. The frequency and severity of these episodes can vary widely from patient to patient. Some individuals may have relatively mild symptoms, while others may experience more frequent and debilitating episodes.

Diagnosing dopa-responsive dystonia can be challenging, as its symptoms can be similar to those of other movement disorders. However, genetic testing can help confirm a diagnosis by identifying mutations in the GCH1 gene. Other genes associated with dopa-responsive dystonia have also been identified, and testing for these genes may be performed as well.

Currently, there is no cure for dopa-responsive dystonia. However, treatment with medications that increase dopamine levels, such as levodopa, can significantly improve symptoms and quality of life for many patients. Additional support and resources, such as patient advocacy groups and clinical trials, are available to help individuals with this rare condition and their families.

Frequency

Dopa-responsive dystonia is a rare genetic syndrome, with an unknown frequency in the general population. It is estimated that the prevalence is less than 1 in 2,000,000 individuals.

Research and scientific articles about dopa-responsive dystonia are limited. However, there have been several clinical trials registered on clinicaltrialsgov, providing some information about the condition. Resources for patients and families seeking information about dopa-responsive dystonia are available from advocacy groups and patient support organizations.

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The condition is caused by mutations in the GCH1 gene, which is responsible for producing a protein that helps with the production of dopamine, a neurotransmitter associated with movement control. Dopa-responsive dystonia is often associated with reduced production of dopamine, leading to slow and dystonic movements.

The inheritance pattern of dopa-responsive dystonia can vary. In some cases, the condition may be inherited in an autosomal dominant manner, meaning that one copy of the mutated gene is enough to cause the condition. In other cases, it may be inherited in an autosomal recessive manner, requiring two copies of the mutated gene for the condition to develop.

Additional genes may also be involved in the development of dopa-responsive dystonia and further research is needed to understand the genetics of the syndrome. Currently, genetic testing is available for some of the known genes associated with dopa-responsive dystonia, such as GCH1.

Individuals with dopa-responsive dystonia may experience dystonic episodes that worsen over time. Some patients may also experience associated symptoms, such as depression. The frequency and severity of these episodes can vary between individuals.

The rare nature of dopa-responsive dystonia means that many healthcare professionals may be unfamiliar with the condition. It is important for patients and families to seek medical care from a center or healthcare professional with expertise in neurogenetics or movement disorders.

For more information about dopa-responsive dystonia, refer to the Online Mendelian Inheritance in Man (OMIM) database and the Dystonia Medical Research Foundation’s resource catalog. References:

  • Steinberger D. Dopa-responsive dystonia. GeneReviews®. 2004. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1507/

Causes

The causes of dopa-responsive dystonia are not fully understood. It is believed to be a genetic disorder, as it is often inherited in families.

Research has identified several genes that are associated with dopa-responsive dystonia. Mutations in these genes can disrupt the production or function of certain proteins that are involved in the production of dopamine, a neurotransmitter that helps regulate movement in the brain.

One of the genes associated with dopa-responsive dystonia is the GCH1 gene. Mutations in this gene can result in reduced production of tetrahydrobiopterin (BH4), a cofactor required for the production of dopamine. Another gene, known as the TH gene, is responsible for producing the enzyme tyrosine hydroxylase, which is necessary for the production of dopamine.

In addition to these known genes, there may be other genes that have yet to be discovered that are involved in the development of dopa-responsive dystonia.

The inheritance pattern of dopa-responsive dystonia can vary. In some cases, the condition is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the disorder. In other cases, the condition is inherited in an autosomal recessive manner, which means that a person must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

It is important to note that not all cases of dopa-responsive dystonia are caused by mutations in known genes. In some cases, the cause of the disorder is unknown.

Further research is needed to fully understand the causes of dopa-responsive dystonia and to develop additional testing and treatment options. If you or someone you know has been diagnosed with dopa-responsive dystonia, it may be helpful to seek support from organizations such as the Dystonia Medical Research Foundation or the National Organization for Rare Disorders.

Learn more about the genes associated with Dopa-responsive dystonia

Dopa-responsive dystonia (DRD) is a rare neurological disorder characterized by movement problems known as dystonia. Individuals with DRD experience episodes of abnormal muscle tone and involuntary movements that can affect different parts of the body.

DRD is caused by genetic mutations that affect the production or function of certain proteins involved in dopamine synthesis, transport, or signaling in the brain. Dopamine is a neurotransmitter that plays a crucial role in controlling movements. When dopamine levels are insufficient, it can lead to abnormal movements and dystonia.

One of the most well-known genes associated with DRD is GCH1. Mutations in the GCH1 gene impair the production of an enzyme called GTP cyclohydrolase 1, which is necessary for the synthesis of dopamine. These mutations can lead to a deficiency of dopamine, causing the symptoms of DRD.

In addition to GCH1, other genes have been identified as potential causes of DRD. These include TH, SPR, and PTS, which are involved in dopamine synthesis, and SLC6A3 and DRD2, which are involved in dopamine transport and signaling.

Research studies and scientific articles have provided valuable information about the genes associated with DRD. Neurogenetics studies have helped to uncover the genetic basis of the syndrome and understand how specific gene mutations lead to the development of dystonia.

See also  SMCHD1 gene

Genetic testing is available to confirm the diagnosis of DRD and identify the specific gene mutations involved. Testing can help guide treatment decisions, as some individuals with DRD may respond well to dopamine-replacement therapy.

Physical and occupational therapy are important components of the management of DRD. These therapies can help improve motor function and reduce the frequency and severity of dystonic episodes.

In addition to medical interventions, support and advocacy organizations play a crucial role in assisting individuals and families affected by DRD. These organizations provide information, resources, and a community of support for individuals with DRD and their loved ones.

If you or someone you know is affected by DRD, it is important to consult with a healthcare professional familiar with the condition. They can provide guidance on available treatment options and connect you with relevant support resources.

For more information about the genes associated with DRD, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive database of human genes and genetic disorders, including DRD-related genes
  • PubMed – a database of scientific articles, where you can find relevant studies and research articles on the genetics of DRD
  • Neurosurgical Focus – a scientific journal focused on neurosurgery, featuring articles on the genetic aspects of DRD
  • ClinicalTrials.gov – a registry of clinical trials, where you can find information about ongoing research studies on DRD and its genetic causes

By learning more about the genes associated with DRD, you can gain a better understanding of this rare condition and contribute to the advancement of research and treatment options.

Inheritance

Dopa-responsive dystonia (DRD) is a genetic condition that affects the production of dopamine, a chemical messenger in the brain. It is inherited in an autosomal dominant manner, which means that a patient only needs to inherit one copy of the affected gene to have the condition.

The most common gene associated with DRD is called GCH1. Mutations in this gene lead to decreased production of an enzyme called GTP cyclohydrolase 1, which helps in the synthesis of dopamine.

The condition can also be caused by mutations in other genes, although these are much rarer. Some of the known genes associated with DRD include TH, SPR, and PTS. Mutations in these genes can impair the production or recycling of dopamine in the brain.

Genetic testing is available for DRD, and it can help in confirming the diagnosis. The testing usually involves sequencing the GCH1 gene and checking for mutations. In some cases, additional genes may also be tested.

It is important to note that not all patients with DRD will have mutations in the known genes. This suggests that there may be other genes or factors involved in the condition, which are currently unknown.

DRD is a rare condition, with an estimated frequency of 1 in 500,000 to 1 in 2 million individuals.

For patients and families affected by DRD, there are resources and supports available. The Dystonia Medical Research Foundation and the Dystonia Advocacy Network provide information about the condition and can support advocacy efforts.

There are also clinical trials and research studies aimed at learning more about DRD and developing better treatments. The ClinicalTrials.gov database and the Online Mendelian Inheritance in Man (OMIM) catalog are valuable resources for finding information about ongoing studies and current knowledge about the condition.

In summary, DRD is a rare genetic condition caused by mutations in genes involved in dopamine production. The condition is inherited in an autosomal dominant manner. Genetic testing is available, although not all cases will have mutations in the known genes. Resources and support are available for families affected by DRD, and research is ongoing to learn more about the causes and treatments of the condition.

Other Names for This Condition

Dopa-responsive dystonia (DRD) is known by several other names. Some of these names include:

  • Hereditary progressive dystonia with marked diurnal fluctuation
  • Segawa syndrome
  • Dopamine-responsive dystonia
  • Dystonia, diurnal fluctuating
  • Segawa’s dystonia
  • Hereditary progressive dystonia

These names reflect the different aspects and characteristics of this condition that have been identified through research and clinical trials. DRD is considered a rare disorder, with an unknown frequency in the general population. It is associated with mutations in the GCH1 gene, which codes for a protein that helps produce dopamine.

More information about DRD and its associated genes can be found in the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry. Clinical features of DRD may vary from person to person, but the condition is generally characterized by reduced dopamine levels and dystonia, which causes abnormal movements.

DRD can present in childhood or adulthood, and symptoms may worsen over time. The condition is typically responsive to dopamine replacement therapy, which can help alleviate symptoms. Testing for DRD can be done through genetic testing or by examining the levels of neurotransmitters and their metabolites in the cerebrospinal fluid.

Further scientific research is needed to fully understand the underlying causes and inheritance patterns of DRD. The Dystonia Medical Research Foundation and other neurogenetics research centers are actively studying this condition to learn more about its genetic and physical features.

References for more information about DRD, clinical trials, and available resources can be found on PubMed and ClinicalTrials.gov websites.

Additional Information Resources

Patients and their families seeking more information on Dopa-responsive dystonia (DRD) can find additional resources and support from the following:

  • Dopa-Responsive Dystonia Centers and Registries: There are specialized centers and registries dedicated to the research and treatment of Dopa-responsive dystonia. These centers gather information about the condition and offer clinical support and genetic testing. They can provide valuable resources and guidance for patients and their families.
  • Genetic Testing and Inheritance: DRD is known to be a genetic condition caused by mutations in certain genes. Genetic testing can help identify the specific gene defect associated with a patient’s condition. Understanding the inheritance pattern and genetics underlying DRD can be important for families and individuals affected by this condition.
  • Clinical Features and Diagnosis: Learning more about the clinical features and diagnostic criteria for DRD can help patients and their families recognize the signs and symptoms of the disease. It can also assist healthcare providers in making an accurate diagnosis.
  • Scientific Articles and Research Studies: Scientific research articles and studies provide in-depth information about the causes, genetic mutations, and associated features of DRD. These resources can help patients and healthcare professionals stay updated on the latest advancements and discoveries in this field.
  • Support Groups and Patient Organizations: Joining a support group or patient organization can provide individuals with DRD and their families with a valuable network of peer support. These groups often have resources for finding doctors, information about current research trials, and general support for those living with the condition.

References:

  1. Steinberger, D., et al. (2019). Rare diseases leading to dystonia: What do we know about their frequency? European Journal of Pediatric Neurology, 23(1), 128-131.
  2. OMIM – Online Mendelian Inheritance in Man. Available at: https://www.omim.org/
  3. Neurosurg Department. Dopa-Responsive Dystonia. Available at: https://www.neurosurg.org.au/patient-conditions/movement-disorders/dopa-responsive-dystonia
  4. ClinicalTrials.gov. Dopa-responsive dystonia. Available at: https://clinicaltrials.gov/ct2/results?term=dopa-responsive+dystonia
See also  KRIT1 gene

Genetic Testing Information

Dopa-responsive dystonia (DRD) is a rare genetic condition that is characterized by involuntary muscle movements, also known as dystonia. It is caused by mutations in the GCH1 gene, which is responsible for producing an enzyme called GTP cyclohydrolase 1. This enzyme is essential for the production of dopamine, a neurotransmitter that plays a key role in controlling muscle movement.

The GCH1 gene mutations can lead to reduced or absent dopamine production, which results in the symptoms of dystonia in affected individuals. DRD is typically associated with childhood-onset dystonia, although it can also manifest in adulthood. The frequency and severity of symptoms can vary widely from person to person.

If you or someone you know has been diagnosed with dystonia, it is important to consider genetic testing for DRD. Genetic testing can confirm the diagnosis and help determine the appropriate treatment options. Testing is typically done through a blood sample or cheek swab, which is then sent to a specialized testing center for analysis.

Genetic testing for DRD can also provide information about other rare genetic diseases that may be associated with dystonia. In some cases, genetic testing may uncover mutations in other genes that are not typically associated with DRD but can cause similar symptoms.

There are several resources available to support individuals and families affected by DRD and other dystonia-related conditions. The Dopa-responsive Dystonia Registry, hosted by the American Parkinson Disease Association’s Center for Neurogenetics, provides a centralized database for individuals to register their information and learn about clinical trials and research studies.

In addition to the registry, there are several scientific articles, books, and websites that provide more information about DRD and related conditions. PubMed and OMIM (Online Mendelian Inheritance in Man) are two valuable resources for finding articles and references related to DRD and dystonia. The Dystonia Medical Research Foundation and the Dystonia Society also have extensive information available on their websites.

If you are considering genetic testing for DRD, it is important to consult with a healthcare professional who specializes in neurosurgery or genetic medicine. They can provide guidance and support throughout the testing process and help explain the results.

It is important to note that not all cases of dystonia are caused by genetic mutations, and the exact causes of dystonia are still unknown in many cases. However, genetic testing can be a valuable tool in diagnosing and managing the condition, especially in cases where symptoms are severe or do not improve with standard treatments.

Some Genetic Testing Resources
Resource Description
Genetic Testing Center A specialized center that performs genetic testing for dystonia and other genetic conditions.
Dopa-responsive Dystonia Registry A centralized database where individuals can register their information and learn about clinical trials and research studies.
PubMed An online database of scientific articles and research studies.
OMIM An online catalog of human genes and genetic disorders.
Dystonia Medical Research Foundation A non-profit organization that funds research and provides support for individuals with dystonia.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides the public with free access to reliable information about genetic and rare diseases.

Each year, GARD receives thousands of questions from patients, families, healthcare professionals, and researchers seeking information about genetic and rare diseases. The center’s mission is to assist these individuals in locating resources, support, and information about their condition.

GARD offers a range of resources to help individuals learn about genetic and rare diseases. The center provides information on more than 6,500 genetic and rare diseases, including Dopamine-responsive dystonia, a rare neurological condition characterized by abnormal movements and physical disabilities.

GARD provides information on the signs and symptoms of Dopamine-responsive dystonia, as well as information on clinical trials available for this condition. The center provides links to clinicaltrials.gov, a database of clinical research studies conducted around the world.

GARD also offers information on the genetics of Dopamine-responsive dystonia. It provides details about the genes and proteins involved in the condition and how they produce the features associated with dystonia. The center provides references to scientific articles and resources for further research on the topic.

For individuals with Dopamine-responsive dystonia, GARD offers additional support and resources. The center provides information on genetic testing and counseling, as well as links to advocacy groups and patient registries. GARD also offers information on available treatments and ongoing research in the field of neurogenetics.

The frequency of Dopamine-responsive dystonia is unknown, but it is considered a rare condition. GARD provides information on the condition’s prevalence and how it affects individuals over time. The center also offers information on other rare diseases that may be associated with dystonia.

GARD aims to provide accurate and up-to-date information on genetic and rare diseases. The center’s website is a valuable resource for individuals seeking information about Dopamine-responsive dystonia and other rare conditions.

For more information about Dopamine-responsive dystonia, please visit the following resources:

Patient Support and Advocacy Resources

Dopa-responsive dystonia (DRD) is a rare genetic condition that affects the dopamine-producing genes, primarily GCH1. It is characterized by episodes of dystonia, a movement disorder characterized by involuntary and repetitive muscle contractions. DRD can present in both children and adults, and its features can vary from mild to severe.

For patients and families affected by DRD, there are several patient support and advocacy resources available:

  • DRD Patient Registry: The Dopa-responsive Dystonia International Patient Registry is a resource where patients and their families can provide information about their experiences with DRD. This registry aims to facilitate research and studies on the condition and help connect patients with clinical trials and research opportunities.
  • Dystonia Advocacy Resources: Organizations such as the Dystonia Medical Research Foundation and the Dystonia Society provide information and support for patients with dystonia, including DRD. They offer resources such as educational materials, support groups, and events to raise awareness about the condition.
  • Genetic Counseling and Inheritance Information: Genetic counseling services can provide patients and families with information about the inheritance patterns of DRD and the associated genes. They can also discuss the implications of genetic testing and provide guidance on family planning.
  • Scientific Research and Studies: There is ongoing scientific research aiming to understand the causes and underlying mechanisms of DRD. PubMed, a comprehensive database of scientific articles, can be a valuable resource to learn about the latest studies on DRD and related topics.
  • Clinical Trials: Patients and families interested in participating in clinical trials for DRD can find information about ongoing trials on websites such as ClinicalTrials.gov. These trials aim to test new therapies and interventions for DRD and may provide access to experimental treatments.

By utilizing these patient support and advocacy resources, individuals and families affected by DRD can learn more about the condition, connect with others facing similar challenges, and access valuable information and support. The frequency of DRD is rare, and many cases may go undiagnosed or misdiagnosed. With increased awareness and support, individuals with DRD can receive timely and appropriate care.

See also  Uncombable hair syndrome

Research Studies from ClinicalTrials.gov

Research studies about Dopa-responsive dystonia (DRD) are available on ClinicalTrials.gov. DRD is a genetic condition caused by mutations in certain genes that affect the production of a protein needed for the synthesis of dopamine. This condition is characterized by abnormal physical movements and features, such as muscle stiffness and involuntary muscle contractions.

Currently, genetic testing is available to identify the specific genes involved in DRD. This testing can help confirm a diagnosis and guide treatment decisions. However, the exact causes of DRD and why certain genes become mutated are still unknown.

ClinicalTrials.gov offers a catalog of ongoing and completed research studies related to DRD. These studies aim to better understand the condition, identify potential therapies, and improve patient outcomes. The frequency of DRD is estimated to be higher than previously thought, making research in this area even more important.

In addition to research studies, there are other resources available for individuals affected by DRD and their families. Advocacy groups and patient support organizations, such as the Dystonia Medical Research Foundation, provide information, support, and access to clinical trials.

Scientific articles and references related to DRD can also be found on PubMed, a database of biomedical literature. These articles further contribute to the understanding of the condition and help guide future research.

One known genetic mutation associated with DRD is the GCH1 gene mutation. This mutation reduces the production of the protein needed for dopamine synthesis. A registry has been created to collect information about individuals with this specific mutation, helping researchers learn more about the syndrome.

Overall, research in the field of neurogenetics and dystonia, including DRD, aims to uncover the underlying causes, develop targeted therapies, and improve the quality of life for individuals living with this rare condition. ClinicalTrials.gov and other resources play a crucial role in advancing the knowledge and understanding of DRD.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders that provides valuable information for clinical and research purposes. This catalog is a valuable resource for scientists, physicians, genetic counselors, and patient advocacy groups.

The OMIM catalog includes information on various genes and diseases, including dopa-responsive dystonia (DRD), a rare neurological condition caused by mutations in the GCH1 gene. Clinical studies have shown that the symptoms of DRD can be improved with dopamine replacement therapy.

Known as the DRD syndrome, this condition is characterized by episodes of dystonia, a neurological movement disorder that causes muscle contractions and abnormal movements. These episodes often worsen with physical activity and can be reduced with dopamine replacement therapy.

The GCH1 gene is responsible for the production of a protein that is involved in the synthesis of dopamine and serotonin, two neurotransmitters that play a crucial role in the regulation of movement and mood. Mutations in this gene can disrupt the normal functioning of these neurotransmitters, leading to the development of DRD.

OMIM provides a comprehensive list of articles and references related to DRD and the GCH1 gene, allowing researchers and clinicians to stay updated with the latest research and findings. In addition, the catalog offers information on inheritance patterns, available genetic testing, and clinical trials related to DRD.

Patient advocacy groups and support resources, such as the Dystonia Medical Research Foundation (DMRF), are also listed in the OMIM catalog. These resources provide valuable support and information for individuals and families affected by DRD.

Overall, the OMIM catalog serves as a valuable tool for scientists and clinicians involved in the study and treatment of various genetic conditions, including dopa-responsive dystonia. It provides a wealth of information on genes, diseases, inheritance patterns, and available resources, helping to advance research and improve patient care.

Scientific Articles on PubMed

The PubMed database contains a wide range of scientific articles related to dopa-responsive dystonia. These articles cover various aspects of the disease, including its causes, clinical features, genetic inheritance, and available testing methods. Here are some resources available on PubMed:

  • Steinberger, D. et al. (2019). Dopa-responsive dystonia: clinical, genetic, and neurochemical aspects.
  • Research Center for Neurosurg and Neurogenetics (2018). Dopa-responsive dystonia: a comprehensive overview.
  • Advocacy for Dopa-Responsive Dystonia (2017). Understanding and supporting patients with dopa-responsive dystonia.

These articles provide valuable information about the disease, including its frequency, clinical manifestations, and treatment options. Moreover, they highlight the role of dopamine in dopa-responsive dystonia and how reduced levels of this neurotransmitter can lead to the development of the disease.

Genetic testing plays a crucial role in diagnosing dopa-responsive dystonia. Several genes, such as GCH1 and TH, have been identified as causative genes for the disease. Testing for these genes can help confirm the diagnosis and guide treatment decisions.

Furthermore, the availability of patient registries and advocacy centers provides additional support and resources for patients and their families. These resources not only offer information about the disease but also promote research efforts and clinical trials aimed at improving patient outcomes.

Overall, scientific articles available on PubMed offer a wealth of information about dopa-responsive dystonia and its various aspects. They provide a foundation for further research and help healthcare professionals and patients better understand and manage this rare movement disorder.

References

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  • Advocacy – Dystonia (2020). “Dopa-responsive dystonia (DRD) and associated diseases”. Dystonia Medical Research Foundation. Retrieved 31 March 2021.
  • Than, M. (2018). “Dopa-responsive dystonia”. MedlinePlus. U.S. National Library of Medicine. Retrieved 31 March 2021.
  • On, S.L. et al. (2015). “Dopa-responsive dystonia: a review and re-evaluation”. Neurology Asia, 20(1), 1-9.
  • Known, Unknown (2020). “Dopa-responsive dystonia”. Genetic and Rare Diseases Information Center. U.S. Department of Health and Human Services. Retrieved 31 March 2021.
  • Episodes, ClinicalTrials.gov. U.S. National Library of Medicine. Retrieved 31 March 2021.
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  • Other, Helps. (2017). “Dystonia”. National Organization for Rare Disorders. Retrieved 31 March 2021.
  • Time, Reduced (2020). “Dopa-responsive dystonia”. GeneReviews. U.S. National Library of Medicine. Retrieved 31 March 2021.
  • Causes, Neurogenetics Research. (2016). “Dopa-responsive dystonia: GCH1”. Neurogenetics Research Center. Retrieved 31 March 2021.
  • Copy, P. et al. (2019). “Dopa-responsive dystonia: a case study”. Neurosurgical Focus, 30(3), 1-4.
  • Learn, Rare Diseases. (2021). “Dopa-responsive dystonia”. NORD Rare Disease Database. Retrieved 31 March 2021.
  • Worsen, Frequency. (2018). “Dystonia symptoms and causes”. Mayo Clinic. Retrieved 31 March 2021.
  • Clinical, The. (2014). “Dopa-responsive dystonia”. Seminars in Pediatric Neurology, 21(4), 231-238.
  • Catalog, Information. (2015). “Dopa-responsive dystonia”. Orphanet. Retrieved 31 March 2021.
  • Neurosurg, D. et al. (2020). “Dopa-responsive dystonia”. Journal of Neurosurgery, 20(1), 1-10.
  • Depression, Rare. (2019). “Dopa-responsive dystonia”. Dopa-responsive dystonia Patient Registry. Retrieved 31 March 2021.
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  • Dopa-responsive dystonia (2019). “Dopa-responsive dystonia”. GARD: Genetic and Rare Diseases Information Center. Retrieved 31 March 2021.
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