Segawa syndrome (DOPA-responsive dystonia)

Genetics

• autosomal dominant & autosomal recessive forms

Clinical manifestations

• dystonia

More general terms

• genetic syndrome (multisystem disorder)

More specific terms

• autosomal recessive Segawa syndrome (autosomal recessive DOPA-responsive dystonia, includes: autosomal recessive infantile parkinsonism)
• dystonia-5; autosomal-dominant dopa-responsive dystonia; progressive dystonia with diurnal fluctuation; autosomal dominant Segawa syndrome; dystonia-parkinsonism with diurnal fluctuation (DYT5)

Database

• OMIM: https://mirror.omim.org/entry/605407