نتایج جستجو برای: dyt6 dystonia

تعداد نتایج: 6616  

2012
Chizoba C. Umeh Paige Nichols Liana S. Rosenthal Zoltan Mari

BACKGROUND Hemichorea-hemiballismus involves unilateral involuntary flailing movements and random jerking movements involving proximal or distal muscles. We describe a case of hemichorea-hemiballismus with dystonia after stroke. Treatment with tetrabenazine and chemodenervation produced beneficial responses. Effective treatment of both hemichorea-hemiballismus and dystonia due to stroke has not...

2012
Jing Ouyang Herman Oppenheim

Introduction Herman Oppenheim first coined the term “dystonia” in 1911 to describe a generalised form of the condition with childhood onset, which he called “dystonia musculorum deformans”. In more recent years, dystonia is now recognised as a spectrum of neurological movement disorders characterised by patterned and sustained muscle contractions, resulting in abnormal postures and involuntary ...

Journal: :Medical problems of performing artists 2014
André Lee Eckart Altenmüller

Task-specific musician's dystonia is highly disabling and mostly affects the upper limb or the embouchure. In a recent paper, lower limb dystonia was reported in a drummer, although no details were given as to its phenomenology and electromyography (EMG). In this paper, we report on the case of a 28-year-old drummer with a task-specific dystonia of the right thigh and describe the phenomenology...

Journal: :Tremor and Other Hyperkinetic Movements 2013

2013
Winfred Mugge Frans C. T. van der Helm Alfred C. Schouten

Complex regional pain syndrome (CRPS) is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. The origin of this movement disorder is poorly understood, although recent insights suggest involvement of disturbed force feedback. Assessment of sensorimotor integration may provide insight into the pathophysiolog...

2014
Satya R Vemula Jianfeng Xiao Yu Zhao Robert W Bastian Joel S Perlmutter Brad A Racette Randal C Paniello Zbigniew K Wszolek Ryan J Uitti Jay A Van Gerpen Peter Hedera Daniel D Truong Andrew Blitzer Monika Rudzińska Dragana Momčilović Hyder A Jinnah Karen Frei Ronald F Pfeiffer Mark S LeDoux

Although coding variants in THAP1 have been causally associated with primary dystonia, the contribution of noncoding variants remains uncertain. Herein, we examine a previously identified Intron 1 variant (c.71+9C>A, rs200209986). Among 1672 subjects with mainly adult-onset primary dystonia, 12 harbored the variant in contrast to 1/1574 controls (P < 0.01). Dystonia classification included cerv...

Journal: :Frontiers in neurology 2016
Rodi Zutt Joke M. Dijk Kathryn J. Peall Hans Speelman Yasmine E. M. Dreissen Maria Fiorella Contarino Marina A. J. Tijssen

INTRODUCTION Myoclonus-dystonia (M-D) is a young onset movement disorder typically involving myoclonus and dystonia of the upper body. A proportion of the cases are caused by mutations to the autosomal dominantly inherited, maternally imprinted, epsilon-sarcoglycan gene (SGCE). Despite several sets of diagnostic criteria, identification of patients most likely to have an SGCE mutation remains d...

2016
Debra J. Ehrlich Steven J. Frucht

Background: Focal dystonia is the most common type of adult-onset dystonia; however, it infrequently affects truncal musculature. Although commonly attributed to secondary etiologies such as a neurodegenerative illness or tardive syndromes, the entity of idiopathic adult-onset truncal dystonia has only been previously described in a few case reports and small case series. Here we characterize s...

2014

Limb dystonia can occur in primary dystonias or as a complication in neurodegenerative diseases e.g. Huntington’s disease, Wilson’s disease or Parkinson syndromes or other diseases like structural brain damage, peripheral trauma or drug-induced. Any muscle group under voluntary control can be affected, dystonic muscle overactivity can occur during rest, be aggravated by movement, or occur only ...

Journal: :Cureus 2023

Background Globus pallidus interna (GPi) deep brain stimulation (DBS) is an established surgical procedure that confers a benefit in medication refractory dystonia. Patients with generalized dystonia require general anesthesia (GA) for the surgery as their movements may hinder procedure. General anesthetics tend to dampen microelectrode recordings (MERs) from GPi. Methods We describe our experi...

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