Dystonia deafness syndrome: A rare deep brain stimulation responsive dystonia

oleh: Sruthi Kola, Rukmini Mridula Kandadai, Mansi Kashyap, Sai Deepak, V VSR K Prasad, Rajesh Alugolu, Rupam Borgohain

Format: Article
Diterbitkan: Wolters Kluwer Medknow Publications 2023-01-01

Deskripsi

Dystonia deafness syndrome (DDS) is a rare syndrome characterized by childhood onset sensorineural deafness followed by adult-onset dystonia. We here report the first case of DDS from India caused by ACTB gene mutation presented with deafness, generalized dystonia and scoliosis who showed improvement after Deep brain stimulation.