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dystonia-5; autosomal-dominant dopa-responsive dystonia; progressive dystonia with diurnal fluctuation; autosomal dominant Segawa syndrome; dystonia-parkinsonism with diurnal fluctuation (DYT5)
Genetics:
- autosomal dominant form associated with defects in GCH1 gene
Clinical manifestations:
- postural & motor disturbances showing marked diurnal fluctuation
Related
Segawa syndrome (DOPA-responsive dystonia)
General
dystonia
Database Correlations
OMIM 128230
References
OMIM :accession 128230