Inherited Dystonias

Philippe A. Salles; Ximena P. Pizarro; José M. Tirapegui

doi:10.1016/B978-0-323-95702-1.00194-9

Inherited Dystonias

Philippe A. Salles
, Ximena P. Pizarro
, José M. Tirapegui

Producción científica: Capítulo del libro/informe/acta de congreso › Capítulo › revisión exhaustiva

Resumen

Dystonia is the main or accompanying symptom in many genetic disorders with complex molecular pathophysiology. So far, more than fifty genetic disorders have been listed as causes of monogenic dystonia, manifesting as isolated, combined, or complex forms of dystonia. Besides, many anecdotal gene-dystonia links have been reported. A systematized approach based on phenomenology and proper selection of diagnostic tools is essential to guide the clinician in the identification of the potential genetic disorder responsible for dystonia in individual cases. This article provides an overview of the molecular and clinical features of the most common dystonia monogenic disorders.

Idioma original	Inglés
Título de la publicación alojada	Encyclopedia of the Neurological Sciences
Editorial	Elsevier
Páginas	V2:191-V2:217
ISBN (versión digital)	9780323957021
ISBN (versión impresa)	9780323957052
DOI	https://doi.org/10.1016/B978-0-323-95702-1.00194-9
Estado	Publicada - 1 ene. 2025

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Publisher Copyright:
© 2025 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.

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abstract = "Dystonia is the main or accompanying symptom in many genetic disorders with complex molecular pathophysiology. So far, more than fifty genetic disorders have been listed as causes of monogenic dystonia, manifesting as isolated, combined, or complex forms of dystonia. Besides, many anecdotal gene-dystonia links have been reported. A systematized approach based on phenomenology and proper selection of diagnostic tools is essential to guide the clinician in the identification of the potential genetic disorder responsible for dystonia in individual cases. This article provides an overview of the molecular and clinical features of the most common dystonia monogenic disorders.",

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Inherited Dystonias

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