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Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia.

Sruthi Kola,Rukmini Mridula Kandadai, Mansi Kashyap, Sai Deepak, Vvsrk Prasad,Rajesh Alugolu,Rupam Borgohain

Annals of Indian Academy of Neurology(2023)

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摘要
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.
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关键词
Deafness,deep brain stimulation,dystonia
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