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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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
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author Kola, Sruthi
Kandadai, Rukmini Mridula
Kashyap, Mansi
Deepak, Sai
Prasad, VVSRK
Alugolu, Rajesh
Borgohain, Rupam
author_facet Kola, Sruthi
Kandadai, Rukmini Mridula
Kashyap, Mansi
Deepak, Sai
Prasad, VVSRK
Alugolu, Rajesh
Borgohain, Rupam
author_sort Kola, Sruthi
collection PubMed
description 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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spelling pubmed-106668842023-09-01 Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia Kola, Sruthi Kandadai, Rukmini Mridula Kashyap, Mansi Deepak, Sai Prasad, VVSRK Alugolu, Rajesh Borgohain, Rupam Ann Indian Acad Neurol Case Report 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. Wolters Kluwer - Medknow 2023 2023-09-27 /pmc/articles/PMC10666884/ /pubmed/38022471 http://dx.doi.org/10.4103/aian.aian_319_23 Text en Copyright: © 2023 Annals of Indian Academy of Neurology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Kola, Sruthi
Kandadai, Rukmini Mridula
Kashyap, Mansi
Deepak, Sai
Prasad, VVSRK
Alugolu, Rajesh
Borgohain, Rupam
Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia
title Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia
title_full Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia
title_fullStr Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia
title_full_unstemmed Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia
title_short Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia
title_sort dystonia deafness syndrome: a rare deep brain stimulation responsive dystonia
topic Case Report
url 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
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