x

Search for a rare disease

* (*) mandatory field
Suggest an update

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Autosomal dominant dopa-responsive dystonia

Disease definition

Autosomal dominant dopa-responsive dystonia (DYT5a) is 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 an older age.

ORPHA:98808

  • Synonym(s):
    • Autosomal dominant Segawa syndrome
    • DYT5a
    • GTPCH1-deficient DRD
    • GTPCH1-deficient dopa-responsive dystonia
    • HPD with marked diurnal fluctuation
    • Hereditary progressive dystonia with marked diurnal fluctuation
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Childhood
  • ICD-10: G24.1
  • OMIM: 128230
  • UMLS: -
  • MeSH: -
  • GARD: 9817
  • MedDRA: -

Detailed information

Professionals

Additional information

Further information on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.