Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

BACKGROUND: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset. PHENOMENOLOGY SHOWN: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome. EDUCATIONAL VALUE: Genera...

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Autores principales: Giron, Camille, Roze, Emmanuel, Degos, Bertrand, Méneret, Aurélie, Jardel, Claude, Lannuzel, Annie, Mochel, Fanny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2018
Materias:
Video Abstracts
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910540/
https://www.ncbi.nlm.nih.gov/pubmed/29686941
http://dx.doi.org/10.7916/D8VM5VBQ
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author Giron, Camille
Roze, Emmanuel
Degos, Bertrand
Méneret, Aurélie
Jardel, Claude
Lannuzel, Annie
Mochel, Fanny
author_facet Giron, Camille
Roze, Emmanuel
Degos, Bertrand
Méneret, Aurélie
Jardel, Claude
Lannuzel, Annie
Mochel, Fanny
author_sort Giron, Camille
collection PubMed
description BACKGROUND: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset. PHENOMENOLOGY SHOWN: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome. EDUCATIONAL VALUE: Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood.
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spelling pubmed-59105402018-04-23 Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome Giron, Camille Roze, Emmanuel Degos, Bertrand Méneret, Aurélie Jardel, Claude Lannuzel, Annie Mochel, Fanny Tremor Other Hyperkinet Mov (N Y) Video Abstracts BACKGROUND: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset. PHENOMENOLOGY SHOWN: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome. EDUCATIONAL VALUE: Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood. Columbia University Libraries/Information Services 2018-04-18 /pmc/articles/PMC5910540/ /pubmed/29686941 http://dx.doi.org/10.7916/D8VM5VBQ Text en © 2018 Giron et al. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommerical–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original author and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed.
spellingShingle Video Abstracts
Giron, Camille
Roze, Emmanuel
Degos, Bertrand
Méneret, Aurélie
Jardel, Claude
Lannuzel, Annie
Mochel, Fanny
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome
title Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome
title_full Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome
title_fullStr Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome
title_full_unstemmed Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome
title_short Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome
title_sort adult-onset generalized dystonia as the main manifestation of megdel syndrome
topic Video Abstracts
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910540/
https://www.ncbi.nlm.nih.gov/pubmed/29686941
http://dx.doi.org/10.7916/D8VM5VBQ
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