Dopa-responsive dystonia, Segawa syndrome

Summary: Dopa-responsive dystonia (DRD) is an inherited type of dystonia that typically begins during childhood but may begin in adolescence or adulthood.[1] Depending on the specific type of DRD, specific symptoms can vary. Features can range from mild ...1

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Symptoms of Dopa-responsive dystonia, Segawa syndrome

Symptoms: The most common form of dopa-responsive dystonia (DRD) is autosomal dominant DRD (caused by a mutation in the GCH1 gene). This form of DRD is usually characterized by childhood-onset dystonia that may be associated with parkinsonism at ...2

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Diagnosis of Dopa-responsive dystonia, Segawa syndrome

Diagnosis: Dopa-responsive dystonia (DRD) is diagnosed based on the signs and symptoms present, results of laboratory tests (sometimes including genetic testing), and response to therapy with levodopa. If DRD is suspected, a therapeutic trial with low doses of levodopa ...3

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Genetics of Dopa-responsive dystonia, Segawa syndrome

Inheritance: Depending on the genetic cause of dopa-responsive dystonia (DRD), it may be inherited in an autosomal dominant or autosomal recessive manner. When DRD is caused by mutations in the GCH1 gene, it is inherited in an autosomal dominant manner ...4

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Treatments

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Causes

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Names and Terminology

Related Diseases: The following diseases are related to Dopa-responsive dystonia; Segawa syndrome AD. If you have a question about any of these diseases, you ...5

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References

  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 12144/ dopa-responsive-dystonia-segawa-syndrome-ad
  2. ibid.
  3. ibid.
  4. ibid.
  5. ibid.

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