Dystonia‐deafness syndrome caused by a β‐actin gene mutation and response to deep brain stimulation

Abstract

The p.Arg183Trp mutation in the beta-actin gene is associated with the clinical presentation of dystonia-deafness syndrome, even with only minimal or no developmental abnormalities of Baraitser-Winter syndrome. GPi-DBS should be considered to ameliorate the invalidating dystonia in these patients. © 2016 International Parkinson and Movement Disorder Society.