Autosomal recessive dopa-responsive dystonia
What is Autosomal recessive dopa-responsive dystonia?
A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
Other condition names
- Autosomal recessive Segawa syndrome
- DYT5b
- Tyrosine hydroxylase deficiency
- Tyrosine hydroxylase-deficient dopa-responsive dystonia
Inheritance type
Autosomal recessive
Prevalence
- Europe: 1-9 in 1,000 000
Age of Onset
- Infancy
- Neonatal
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