dopa-responsive dystonia

info · Genetic · ICD-10: G24.1

A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13.

Signs and symptoms

Gaze-evoked horizontal nystagmus
Dystonia
Hyperreflexia
Parkinsonism with favorable response to dopaminergic medication
Torticollis
Babinski sign
Bradykinesia
Gait ataxia
Transient hyperphenylalaninemia
Incoordination

Also known as: Autosomal dominant Segawa syndrome; DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT; DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT; DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION; GTPCH1-deficient DRD