Dystonia‐Deafness Syndrome Response to Subthalamic Nucleus Stimulation

Abstract

Dystonia-deafness syndrome (DDS) is a distinct clinical entity with an unclear pathophysiological mechanism. Sensory-neural deafness and dystonia are the dominant characteristics of DDS, with the former always preceding the latter. 1 Several genetic causes of DDS have been identified, such as Mohr-Tranebjaerg syndrome; Woodhouse-Sakati syndrome; large deletion of chro-FIG. 1. Diagram of ACTB C.547C > T (p.R183W) alteration. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this mutation is pathogenic. (A) The base of C.547 mutated from C to T, and the amino acid changed from arginine to tryptophan. (B) The 3-dimensional model structure of β-actin (ACTB) wild type. (C) The Arg 183 of ACTB. (D) The Trp 183 of mutated ACTB.