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 inTremor and other hyperkinetic movements (New York, N.Y.) Vol. 9
Main Authors Zúñiga-Ramírez, Carlos, Kramis-Hollands, Mirelle, Mercado-Pimentel, Rodrigo, González-Usigli, Héctor Alberto, Sáenz-Farret, Michel, Soto-Escageda, Alberto, Fasano, Alfonso
Format Journal Article
LanguageEnglish
Published United States Ubiquity Press 2019
Subjects
Ataxia
Dystonia
Epilepsy
Executive function
Families & family life
Genetic testing
Genotype & phenotype
Intellectual disabilities
Mutation
status dystonicus
ATP1A3
AHC-2
rapid-onset parkinsonism-dystonia
dystonia
paroxysmal dyskinesia
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Summary: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.
ISSN:2160-8288
2160-8288
DOI:10.5334/tohm.490