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

More general terms

• dystonia

Additional terms

• Segawa syndrome (DOPA-responsive dystonia)

Database

• OMIM: https://mirror.omim.org/entry/128230