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Series of Dopa Responsive Dystonia Masquerading as Other Diseases with Short Review

Dopa-responsive dystonia (DRD) encompasses a group of clinically and genetically heterogeneous disorders that typically manifest as limb-onset, diurnally fluctuating dystonia presenting in early life and exhibits a robust and sustained response to levodopa treatment. DRD is one of the treatable dyst...

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Autores principales: Mishra, Shubhankar, Mallick, Ashok K, Panigrahy, Debasish, Nayak, Priyabrata, Biswal, Nihar R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8078628/
https://www.ncbi.nlm.nih.gov/pubmed/33936308
http://dx.doi.org/10.4103/jpn.JPN_74_19
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author Mishra, Shubhankar
Mallick, Ashok K
Panigrahy, Debasish
Nayak, Priyabrata
Biswal, Nihar R
author_facet Mishra, Shubhankar
Mallick, Ashok K
Panigrahy, Debasish
Nayak, Priyabrata
Biswal, Nihar R
author_sort Mishra, Shubhankar
collection PubMed
description Dopa-responsive dystonia (DRD) encompasses a group of clinically and genetically heterogeneous disorders that typically manifest as limb-onset, diurnally fluctuating dystonia presenting in early life and exhibits a robust and sustained response to levodopa treatment. DRD is one of the treatable dystonia syndromes of childhood. It starts with the involvement of lower limb and associated with characteristic diurnal variation. Many times it is misdiagnosed as cerebral palsy due to selective lower limb preference. We report a series of three cases of DRD which were previously misdiagnosed. The first case presented as myelopathy and other two were diagnosed as cerebral palsy. It is a treatable condition with very good response to drugs. Early diagnosis and adequate therapy can prevent from catastrophic complications.
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spelling pubmed-80786282021-04-30 Series of Dopa Responsive Dystonia Masquerading as Other Diseases with Short Review Mishra, Shubhankar Mallick, Ashok K Panigrahy, Debasish Nayak, Priyabrata Biswal, Nihar R J Pediatr Neurosci Case Report Dopa-responsive dystonia (DRD) encompasses a group of clinically and genetically heterogeneous disorders that typically manifest as limb-onset, diurnally fluctuating dystonia presenting in early life and exhibits a robust and sustained response to levodopa treatment. DRD is one of the treatable dystonia syndromes of childhood. It starts with the involvement of lower limb and associated with characteristic diurnal variation. Many times it is misdiagnosed as cerebral palsy due to selective lower limb preference. We report a series of three cases of DRD which were previously misdiagnosed. The first case presented as myelopathy and other two were diagnosed as cerebral palsy. It is a treatable condition with very good response to drugs. Early diagnosis and adequate therapy can prevent from catastrophic complications. Wolters Kluwer - Medknow 2020 2021-01-19 /pmc/articles/PMC8078628/ /pubmed/33936308 http://dx.doi.org/10.4103/jpn.JPN_74_19 Text en Copyright: © 2021 Journal of Pediatric Neurosciences 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
Mishra, Shubhankar
Mallick, Ashok K
Panigrahy, Debasish
Nayak, Priyabrata
Biswal, Nihar R
Series of Dopa Responsive Dystonia Masquerading as Other Diseases with Short Review
title Series of Dopa Responsive Dystonia Masquerading as Other Diseases with Short Review
title_full Series of Dopa Responsive Dystonia Masquerading as Other Diseases with Short Review
title_fullStr Series of Dopa Responsive Dystonia Masquerading as Other Diseases with Short Review
title_full_unstemmed Series of Dopa Responsive Dystonia Masquerading as Other Diseases with Short Review
title_short Series of Dopa Responsive Dystonia Masquerading as Other Diseases with Short Review
title_sort series of dopa responsive dystonia masquerading as other diseases with short review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8078628/
https://www.ncbi.nlm.nih.gov/pubmed/33936308
http://dx.doi.org/10.4103/jpn.JPN_74_19
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