Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia

被引:2
作者
Kola, Sruthi [1 ]
Kandadai, Rukmini Mridula [1 ]
Kashyap, Mansi [1 ]
Deepak, Sai [1 ]
Prasad, Vvsrk [1 ]
Alugolu, Rajesh [1 ]
Borgohain, Rupam [1 ]
机构
[1] Citi Neuro Ctr, Dept Parkinsons Dis & Movement Disorders Res Ctr P, Hyderabad, Telangana, India
关键词
Deafness; deep brain stimulation; dystonia; BETA-ACTIN; MUTATION;
D O I
10.4103/aian.aian_319_23
中图分类号
R74 [神经病学与精神病学];
学科分类号
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.
引用
收藏
页码:766 / 768
页数:3
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