نتایج جستجو برای: dyt6 dystonia
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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...
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 ...
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...
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...
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...
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...
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...
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 ...
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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