Search engine for discovering works of Art, research articles, and books related to Art and Culture
Javascript must be enabled to continue!
Dystonia
View through CrossRef
Diagnosing dystonia requires a solid understanding of the phenomenology of this movement disorder as well as successful classification and a systematic search for the etiology. We describe the current definition, classification, and methodology for reaching an accurate diagnosis. This review covers the most relevant clinical features of disorders where dystonia is present, emphasizing the affected genes most recently identified, as well as other pathophysiologic factors involved in the generation of this condition. Finally, advances in medical treatment and surgery for dystonia are discussed.
Key words: antipsychotics, botulinum toxin, combined, deep brain stimulation, dopa-responsive dystonia, dystonia, focal, isolated, neurodegenerative, phenomenology, specific task, triggers
Title: Dystonia
Description:
Diagnosing dystonia requires a solid understanding of the phenomenology of this movement disorder as well as successful classification and a systematic search for the etiology.
We describe the current definition, classification, and methodology for reaching an accurate diagnosis.
This review covers the most relevant clinical features of disorders where dystonia is present, emphasizing the affected genes most recently identified, as well as other pathophysiologic factors involved in the generation of this condition.
Finally, advances in medical treatment and surgery for dystonia are discussed.
Key words: antipsychotics, botulinum toxin, combined, deep brain stimulation, dopa-responsive dystonia, dystonia, focal, isolated, neurodegenerative, phenomenology, specific task, triggers.
Related Results
Adult onset familial cervical dystonia: Report of a family including monozygotic twins
Adult onset familial cervical dystonia: Report of a family including monozygotic twins
AbstractWe report the first family with adult onset cervical dystonia in which monozygotic twins and multiple family members are affected. In this family, the disease exhibits an a...
SGCE Myoclonus Dystonia: A Case Report
SGCE Myoclonus Dystonia: A Case Report
BACKGROUND: SGCE myoclonus dystonia is a rare genetic movement disorder caused by mutations in the SGCE gene. It typically presents in childhood and is characterized by myoclonus a...
Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment
Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment
Purpose of review
The present study will highlight recent advances in the field of myoclonus-dystonia with a focus on clinical aspects, pathogenesis, and treatment. We ...
Objective dystonia prediction with MRI after neonatal hypoxic-ischemic encephalopathy
Objective dystonia prediction with MRI after neonatal hypoxic-ischemic encephalopathy
AbstractAimTo determine an objective and clinically-feasible method to predict dystonia in cerebral palsy (CP) using magnetic resonance imaging (MRI) following neonatal hypoxic-isc...
Involvement of respiratory muscles in adult‐onset dystonia: A clinical and electrophysiological study
Involvement of respiratory muscles in adult‐onset dystonia: A clinical and electrophysiological study
AbstractInvolvement of respiratory muscles is unusual in dystonia, but its occurrence may be underestimated either because it is not conspicuous or because it is improperly imputed...
A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition
A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition
Abstract
Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder caused by pathogenic variants in the TIMM8A gene. TIMM8A, also known as D...
Sensorimotor integration in movement disorders
Sensorimotor integration in movement disorders
AbstractAlthough current knowledge attributes movement disorders to a dysfunction of the basal ganglia–motor cortex circuits, abnormalities in the peripheral afferent inputs or in ...