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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Ubiquity Press
2019-08-01
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Online Access: | https://tremorjournal.org/index.php/tremor/article/view/656/2357 |
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doaj-bced6b4e87f44b349c94923cef13476f2021-04-02T11:48:25ZengUbiquity PressTremor and Other Hyperkinetic Movements2160-82882019-08-01901310.7916/tohm.v0.656656Gait Impairment in Myoclonus–Dystonia (DYT-SGCE)Ghazal Haeri0Gholamali Shahidi1Alfonso Fasano2Mohammad Rohani3Krembil Brain Institute, Toronto, Ontario, CAKrembil Brain Institute, Toronto, Ontario, CAEdmond J. Safra Program in Parkinson’s Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, CAKrembil Brain Institute, Toronto, Ontario, CABackground: 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.https://tremorjournal.org/index.php/tremor/article/view/656/2357GaitEpsilon-sarcoglycanmyoclonus–dystoniamyoclonusDYT11 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ghazal Haeri Gholamali Shahidi Alfonso Fasano Mohammad Rohani |
spellingShingle |
Ghazal Haeri Gholamali Shahidi Alfonso Fasano Mohammad Rohani Gait Impairment in Myoclonus–Dystonia (DYT-SGCE) Tremor and Other Hyperkinetic Movements Gait Epsilon-sarcoglycan myoclonus–dystonia myoclonus DYT11 |
author_facet |
Ghazal Haeri Gholamali Shahidi Alfonso Fasano Mohammad Rohani |
author_sort |
Ghazal Haeri |
title |
Gait Impairment in Myoclonus–Dystonia (DYT-SGCE) |
title_short |
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_sort |
gait impairment in myoclonus–dystonia (dyt-sgce) |
publisher |
Ubiquity Press |
series |
Tremor and Other Hyperkinetic Movements |
issn |
2160-8288 |
publishDate |
2019-08-01 |
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. |
topic |
Gait Epsilon-sarcoglycan myoclonus–dystonia myoclonus DYT11 |
url |
https://tremorjournal.org/index.php/tremor/article/view/656/2357 |
work_keys_str_mv |
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