NLM Logo

Dystonia, Dopa-responsive MeSH Supplementary Concept Data 2023


MeSH Supplementary
Dystonia, Dopa-responsive
Unique ID
C538007
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C538007
Entry Term(s)
Dopa-Responsive Dystonia
Dopa-responsive dystonia, autosomal dominant
Dystonia 5
Dystonia, Dopa-responsive, autosomal dominant
Dystonia, progressive, with diurnal variation
Dystonia-Parkinsonism with diurnal fluctuation
Hereditary Progressive Dystonia with Marked Diurnal Fluctuation
Segawa syndrome, autosomal dominant
Registry Number
0
Heading Mapped to
*Dystonic Disorders
Frequency
118
Note
A hereditary DYSTONIA where symptoms similar to those of PARKINSON DISEASE arise in early childhood; it responds favorably to treatment with LEVODOPA. Germline mutations in the GCH1 gene have been identified. OMIM: 128230
Date of Entry
2010/08/25
Revision Date
2015/08/18
Dystonia, Dopa-responsive Preferred
page delivered in 0.002s