Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia

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 improvemen...

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Detalles Bibliográficos
Autores principales: Kola, Sruthi, Kandadai, Rukmini Mridula, Kashyap, Mansi, Deepak, Sai, Prasad, VVSRK, Alugolu, Rajesh, Borgohain, Rupam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10666884/
https://www.ncbi.nlm.nih.gov/pubmed/38022471
http://dx.doi.org/10.4103/aian.aian_319_23
Descripción
Sumario: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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