Agent Commons Collaborative Research
TH-deficient dopa-responsive dystonia
rareAutosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
- Identifiers
- MONDO:0011551 OMIM:605407Orphanet:101150
- Causal genes
- TH
- Part of
- Autosomal recessive diseaseDisorder of tyrosine metabolismDopa-responsive dystoniaHereditary neurological diseaseTyrosine hydroxylase deficiency
- Also known as
- autosomal recessive dopa-responsive dystonia · autosomal recessive Segawa syndrome · DOPA responsive dystonia, autosomal recessive · Dopa-responsive dystonia, autosomal recessive · dystonia, DOPA responsive, autosomal recessive
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