KEGG DISEASE: Dopa-responsive dystonia

KEGG

DISEASE: Dopa-responsive dystonia

Entry

H02557                      Disease

Name

Dopa-responsive dystonia

Subgroup

Segawa syndrome, autosomal dominant (DYT5a)
Segawa syndrome, autosomal recessive (DYT5b)
Sepiapterin reductase deficiency [DS:H02597]

Supergrp

Primary dystonia [DS:H00831]

Description

Dopa-responsive dystonia (DRD) encompasses a clinically and genetically heterogeneous group of disorders that typically manifest as limb-onset dystonia that fluctuates diurnally and improves with levodopa treatment. DRD usually results from genetic defects in enzymes that are involved in the biosynthesis of dopamine. The most common condition is autosomal dominant GTP cyclohydrolase 1 deficiency (Segawa syndrome). An autosomal recessive form of Segawa syndrome is caused by mutation in the tyrosine hydroxylase gene.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A02  Dystonic disorders
    H02557  Dopa-responsive dystonia
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
  nt06028  Dopamine and serotonin metabolism
   H02557  Dopa-responsive dystonia
Cellular process
  nt06544  Neuroactive ligand signaling
   H02557  Dopa-responsive dystonia

Pathway

hsa00790 Folate biosynthesis

hsa00350 Tyrosine metabolism

hsa04728 Dopaminergic synapse

Network

nt06028 Dopamine and serotonin metabolism
nt06544 Neuroactive ligand signaling

Gene

(DYT5a) GCH1 [HSA:2643] [KO:K01495]
(DYT5b) TH [HSA:7054] [KO:K00501]

Other DBs

ICD-11:

MeSH:

C538007 C537537

OMIM:

Reference

Authors

Wijemanne S, Jankovic J

Title

Dopa-responsive dystonia--clinical and genetic heterogeneity.

Journal

Nat Rev Neurol 11:414-24 (2015)
DOI:10.1038/nrneurol.2015.86

Reference

PMID:19292934 (GCH1)

Authors

Segawa M

Title

Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).

Journal

Chang Gung Med J 32:1-11 (2009)

Reference

PMID:7814018 (TH)

Authors

Ludecke B, Dworniczak B, Bartholome K

Title

A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.

Journal

Hum Genet 95:123-5 (1995)
DOI:10.1007/BF00225091

LinkDB

» Japanese version

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