Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant
Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing. A pair of monozygotic twins with dystonia and paroxysmal attacks, resembling paroxysmal non-kinesigenic dyskinesias, due to a novel variant...
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| Published in | Tremor and other hyperkinetic movements (New York, N.Y.) Vol. 9 |
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| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Ubiquity Press
2019
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| Subjects | |
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| Abstract | Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing.
A pair of monozygotic twins with dystonia and paroxysmal attacks, resembling paroxysmal non-kinesigenic dyskinesias, due to a novel
variant are reported. The complete resolution of their paroxysms was achieved using levodopa and deep brain stimulation of the internal globus pallidus. Improvement of interictal dystonia was also achieved with this therapy.
Paroxysmal worsening of movement disorders should be suspected as part of the
spectrum. Treatment outcome might be predicted based on the phenotype. |
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| AbstractList | Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing.
A pair of monozygotic twins with dystonia and paroxysmal attacks, resembling paroxysmal non-kinesigenic dyskinesias, due to a novel
variant are reported. The complete resolution of their paroxysms was achieved using levodopa and deep brain stimulation of the internal globus pallidus. Improvement of interictal dystonia was also achieved with this therapy.
Paroxysmal worsening of movement disorders should be suspected as part of the
spectrum. Treatment outcome might be predicted based on the phenotype. Background: Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing.Case report: A pair of monozygotic twins with dystonia and paroxysmal attacks, resembling paroxysmal non-kinesigenic dyskinesias, due to a novel ATP1A3 variant are reported. The complete resolution of their paroxysms was achieved using levodopa and deep brain stimulation of the internal globus pallidus. Improvement of interictal dystonia was also achieved with this therapy.Discussion: Paroxysmal worsening of movement disorders should be suspected as part of the ATP1A3 spectrum. Treatment outcome might be predicted based on the phenotype. |
| Author | Zúñiga-Ramírez, Carlos Fasano, Alfonso Kramis-Hollands, Mirelle Sáenz-Farret, Michel González-Usigli, Héctor Alberto Mercado-Pimentel, Rodrigo Soto-Escageda, Alberto |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/31871823$$D View this record in MEDLINE/PubMed |
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| Copyright | 2019 Zúñiga-Ramírez et al. 2019. This work is published under https://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. |
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| Keywords | status dystonicus ATP1A3 AHC-2 rapid-onset parkinsonism-dystonia dystonia paroxysmal dyskinesia |
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| Title | Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant |
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