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Myoclonic Disorders

Few movement disorders seem to make a straightforward approach to diagnosis and treatment more difficult and frustrating than myoclonus, due to its plethora of causes and its variable classifications. Nevertheless, in recent years, exciting advances have been made in the elucidation of the pathophys...

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Detalles Bibliográficos
Autores principales: Eberhardt, Olaf, Topka, Helge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5575623/
https://www.ncbi.nlm.nih.gov/pubmed/28805718
http://dx.doi.org/10.3390/brainsci7080103
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author Eberhardt, Olaf
Topka, Helge
author_facet Eberhardt, Olaf
Topka, Helge
author_sort Eberhardt, Olaf
collection PubMed
description Few movement disorders seem to make a straightforward approach to diagnosis and treatment more difficult and frustrating than myoclonus, due to its plethora of causes and its variable classifications. Nevertheless, in recent years, exciting advances have been made in the elucidation of the pathophysiology and genetic basis of many disorders presenting with myoclonus. Here, we provide a review of all of the important types of myoclonus encountered in pediatric and adult neurology, with an emphasis on the recent developments that have led to a deeper understanding of this intriguing phenomenon. An up-to-date list of the genetic basis of all major myoclonic disorders is presented. Randomized studies are scarce in myoclonus therapy, but helpful pragmatic approaches at diagnosis as well as treatment have been recently suggested.
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spelling pubmed-55756232017-08-31 Myoclonic Disorders Eberhardt, Olaf Topka, Helge Brain Sci Review Few movement disorders seem to make a straightforward approach to diagnosis and treatment more difficult and frustrating than myoclonus, due to its plethora of causes and its variable classifications. Nevertheless, in recent years, exciting advances have been made in the elucidation of the pathophysiology and genetic basis of many disorders presenting with myoclonus. Here, we provide a review of all of the important types of myoclonus encountered in pediatric and adult neurology, with an emphasis on the recent developments that have led to a deeper understanding of this intriguing phenomenon. An up-to-date list of the genetic basis of all major myoclonic disorders is presented. Randomized studies are scarce in myoclonus therapy, but helpful pragmatic approaches at diagnosis as well as treatment have been recently suggested. MDPI 2017-08-14 /pmc/articles/PMC5575623/ /pubmed/28805718 http://dx.doi.org/10.3390/brainsci7080103 Text en © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Eberhardt, Olaf
Topka, Helge
Myoclonic Disorders
title Myoclonic Disorders
title_full Myoclonic Disorders
title_fullStr Myoclonic Disorders
title_full_unstemmed Myoclonic Disorders
title_short Myoclonic Disorders
title_sort myoclonic disorders
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5575623/
https://www.ncbi.nlm.nih.gov/pubmed/28805718
http://dx.doi.org/10.3390/brainsci7080103
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