Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics

We describe a GCH-1–associated late-onset DRD case with a family history of parkinsonism and cervical dystonia whose response to levodopa was poor and complicated with dyskinesia, blepharospasm, and severe nonmotor symptoms. We use this case as a springboard to review the spectrum of atypical DRD, DRD-plus, and DRD mimics.

Summary
GCH-1–related dystonia may exhibit wide intrafamilial phenotypic variability, no diurnal fluctuation, poor response to l-dopa, and such complications as dyskinesia, epilepsy, sleep disorders, autonomic dysfunction, oculogyric crisis, myoclonus, or tics. More recently, rare GCH-1 variants have been found to be associated with Parkinson disease. Clinicians should be aware of atypical DRD, DRD-plus, and DRD mimics.

Source: Neurology Clinical Practice - December 13, 2021 Category: Neurology Authors: Salles, P. A., Teran-Jimenez, M., Vidal-Santoro, A., Chana-Cuevas, P., Kauffman, M., Espay, A. J. Tags: All Clinical Neurology, Dystonia, Parkinson's disease/Parkinsonism Review Source Type: research