autosomal recessive Segawa syndrome (autosomal recessive DOPA-responsive dystonia, includes: autosomal recessive infantile parkinsonism)

Genetics

• autosomal recessive
• associated with defects in tyrosine hydroxylase

Clinical manifestations

• typically, it begins in childhood or adolescence with progressive difficulty in walking &, in some cases, spasticity
• some cases present with parkinsonian symptoms in infancy (autosomal recessive infantile parkinsonism)

More general terms

• Segawa syndrome (DOPA-responsive dystonia)

Additional terms

• 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