Gait Impairment in Myoclonus–Dystonia (DYT-SGCE)

BACKGROUND: Myoclonus–dystonia usually presents variable combination of myoclonus and dystonia mainly affecting the neck and arms, but leg involvement, especially as the presenting sign, is not common. CASE REPORT: A 29-year-old lady with a heterozygous mutation in Epsilon-sarcoglycan (SGCE) gene is...

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Autores principales: Haeri, Ghazal, Shahidi, Gholamali, Fasano, Alfonso, Rohani, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6691910/
https://www.ncbi.nlm.nih.gov/pubmed/31413899
http://dx.doi.org/10.7916/tohm.v0.656
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author Haeri, Ghazal
Shahidi, Gholamali
Fasano, Alfonso
Rohani, Mohammad
author_facet Haeri, Ghazal
Shahidi, Gholamali
Fasano, Alfonso
Rohani, Mohammad
author_sort Haeri, Ghazal
collection PubMed
description BACKGROUND: Myoclonus–dystonia usually presents variable combination of myoclonus and dystonia mainly affecting the neck and arms, but leg involvement, especially as the presenting sign, is not common. CASE REPORT: A 29-year-old lady with a heterozygous mutation in Epsilon-sarcoglycan (SGCE) gene is presented with rapid jerks of the right leg interfering with walking. She has also manifested dystonic posture and jerks of the trunk and proximal upper limbs. DISCUSSION: Although it is not typical, leg involvement could be a manifestation of myoclonus–dystonia either at presentation or during disease progression.
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spelling pubmed-66919102019-08-14 Gait Impairment in Myoclonus–Dystonia (DYT-SGCE) Haeri, Ghazal Shahidi, Gholamali Fasano, Alfonso Rohani, Mohammad Tremor Other Hyperkinet Mov (N Y) Case Report BACKGROUND: Myoclonus–dystonia usually presents variable combination of myoclonus and dystonia mainly affecting the neck and arms, but leg involvement, especially as the presenting sign, is not common. CASE REPORT: A 29-year-old lady with a heterozygous mutation in Epsilon-sarcoglycan (SGCE) gene is presented with rapid jerks of the right leg interfering with walking. She has also manifested dystonic posture and jerks of the trunk and proximal upper limbs. DISCUSSION: Although it is not typical, leg involvement could be a manifestation of myoclonus–dystonia either at presentation or during disease progression. Columbia University Libraries/Information Services 2019-08-02 /pmc/articles/PMC6691910/ /pubmed/31413899 http://dx.doi.org/10.7916/tohm.v0.656 Text en © 2019 Haeri et al. https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommercial–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original authors and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed.
spellingShingle Case Report
Haeri, Ghazal
Shahidi, Gholamali
Fasano, Alfonso
Rohani, Mohammad
Gait Impairment in Myoclonus–Dystonia (DYT-SGCE)
title Gait Impairment in Myoclonus–Dystonia (DYT-SGCE)
title_full Gait Impairment in Myoclonus–Dystonia (DYT-SGCE)
title_fullStr Gait Impairment in Myoclonus–Dystonia (DYT-SGCE)
title_full_unstemmed Gait Impairment in Myoclonus–Dystonia (DYT-SGCE)
title_short Gait Impairment in Myoclonus–Dystonia (DYT-SGCE)
title_sort gait impairment in myoclonus–dystonia (dyt-sgce)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6691910/
https://www.ncbi.nlm.nih.gov/pubmed/31413899
http://dx.doi.org/10.7916/tohm.v0.656
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AT rohanimohammad gaitimpairmentinmyoclonusdystoniadytsgce

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