Weaver's Dystonia: A Novel form of Focal Task-Specific Dystonia.
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ABSTRACT:
SUBMITTER: Barad N
PROVIDER: S-EPMC7533999 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Adult-onset, task-specific dystonia of the lower limb is a rare occurrence. In this report, the authors present 6 cases of task-specific dystonia manifested only when going down the stairs. These patients were seen by 6 different neurologists from across Canada, Australia, and New Zealand, and all videos were reviewed by 1 movement disorders specialist who made the final diagnosis. Video description of each case is also presented. All 6 patients demonstrated dystonia of 1 of their lower limbs specifically only when going down the stairs. The remainder of the neurological examination was normal, and distractibility, inconsistency, fixed dystonia, or a premonitory urge were absent, making functional movement disorder and tic disorder unlikely. These 6 patients display a distinct, adult-onset, focal isolated dystonia manifested only on going down the stairs that is recognizable as a new task-specific dystonia of the lower extremity.
| S-EPMC6353457 | biostudies-literature
Project description:Electrophysiological and behavioral studies in primary dystonia suggest abnormalities during movement preparation, but this crucial phase preceding movement onset has not yet been studied specifically with functional magnetic resonance imaging (fMRI). To identify abnormalities in brain activation during movement preparation, we used event-related fMRI to analyze behaviorally unimpaired sequential finger movements in 18 patients with task-specific focal hand dystonia (FHD) and 18 healthy subjects. Patients and controls executed self-initiated or externally cued prelearnt four-digit sequential movements using either right or left hands. In FHD patients, motor performance of the sequential finger task was not associated with task-related dystonic posturing and their activation levels during motor execution were highly comparable with controls. On the other hand reduced activation was observed during movement preparation in the FHD patients in left premotor cortex / precentral gyrus for all conditions, and for self-initiation additionally in supplementary motor area, left mid-insula and anterior putamen, independent of effector side. Findings argue for abnormalities of early stages of motor control in FHD, manifesting during movement preparation. Since deficits map to regions involved in the coding of motor programs, we propose that task-specific dystonia is characterized by abnormalities during recruitment of motor programs: these do not manifest at the behavioral level during simple automated movements, however, errors in motor programs of complex movements established by extensive practice (a core feature of FHD), trigger the inappropriate movement patterns observed in task-specific dystonia.
| S-EPMC3805688 | biostudies-literature
Project description:In Response To: Frucht SJ. Focal task-specific dystonia-from early descriptions to a new, modern formulation. Tremor Other Hyperkinet Mov. 2014; 4. doi: 10.7916/D8VD6WHP.
| S-EPMC4648473 | biostudies-other
Project description:Introduction: Focal task-specific dystonia in the lower limb or foot often occurs only during walking, running, hiking, or cycling. Several medications and botulinum toxin injection are effective in patients with this disorder. The objective of this study was to understand the spectrum of focal task-specific dystonia in the lower limb only when walking stairs and to compare other types of task-specific dystonia. Methods: All original articles and case reports were collected and reviewed using PubMed. In addition, all video clips of published cases were evaluated, and patients' clinical findings analyzed. The present study included 12 patients described in previous studies and five new Asian patients found in the medical records. Results: Most of the patients were women, and the onset age was 42 years. Ten patients were classified as the Kicking type, including three patients with the rKicking type, and six patients were considered as the Lifting type; however, only one patient was not included in any of the types. Symptoms in most of the patients did not improve with any medications or botulinum toxin injection. The symptoms of most patients did not change over a long time. Conclusion: Most patients showed the dystonic symptom when walking downstairs rather than upstairs. Psychogenic dystonia is a disease differentially diagnosed with this dystonia. Unlike other types of focal task-specific dystonia, the response to treatment was disappointing because most of the medications and botulinum toxin injection were not effective. The prognosis is completely different from that of other types of focal task-specific dystonia.
| S-EPMC6842934 | biostudies-literature
Project description:Stair-specific FTSD in the lower limb is very rare. Most patients show dystonic posture when walking downstairs rather than upstairs.
| S-EPMC7455451 | biostudies-literature
Project description: Not available
| S-EPMC6547033 | biostudies-literature
Project description:OBJECTIVES:Task-specific focal dystonia selectively affects the motor control during skilled and highly learned behaviors. Recent data suggest the role of neural network abnormalities in the development of the pathophysiological dystonic cascade. METHODS:We used resting-state functional MRI and analytic techniques rooted in network science and graph theory to examine the formation of abnormal subnetwork of highly influential brain regions, the functional network kernel, and its influence on aberrant dystonic connectivity specific to affected body region and skilled motor behavior. RESULTS:We found abnormal embedding of sensorimotor cortex and prefrontal thalamus in dystonic network kernel as a hallmark of task-specific focal dystonia. Dependent on the affected body region, aberrant functional specialization of the network kernel included regions of motor control management in focal hand dystonia (writer's cramp, musician's focal hand dystonia) and sensorimotor processing in laryngeal dystonia (spasmodic dysphonia, singer's laryngeal dystonia). Dependent on skilled motor behavior, the network kernel featured altered connectivity between sensory and motor execution circuits in musician's dystonia (musician's focal hand dystonia, singer's laryngeal dystonia) and abnormal integration of sensory feedback into motor planning and executive circuits in non-musician's dystonia (writer's cramp, spasmodic dysphonia). CONCLUSIONS:Our study identified specific traits in disorganization of large-scale neural connectivity that underlie the common pathophysiology of task-specific focal dystonia while reflecting distinct symptomatology of its different forms. Identification of specialized regions of information transfer that influence dystonic network activity is an important step for future delineation of targets for neuromodulation as a potential therapeutic option of task-specific focal dystonia. © 2018 International Parkinson and Movement Disorder Society.
| S-EPMC6309584 | biostudies-literature
Project description:Background:Skater's cramp is an involuntary lower leg movement in skilled speed skaters. We aim to evaluate whether skater's cramp is compatible with task-specific dystonia. Methods:A case-control study tested 5 speed skaters exhibiting symptoms of skater's cramp and 5 controls. Affected skaters completed a standardized questionnaire and neurological examination. Video analyses included skating normally, intensely, and with extra mass around the skater's ankles. An Inertial Motion Capturing (IMC) device mounted on both skates provided angular velocity data for both feet. Results:Median time of onset of skater's cramp occurred after 12 (range 3-22) years of speed skating. Skater's cramp appeared as task specific; its onset was sudden and correlated to stress and aberrant proprioception. Symptoms presented acutely and consistently during skating, unilaterally in 4 and bilaterally in 1 skater. Visually, skater's cramp was an active, patterned, and person-specific jerking of a skater's foot, either exo- or endorotationally. It presented asymmetrically, repeating persistently as the foot neared the end of the swing phase. The skater's affected leg had a longer swing phase (median, 1.37 [interquartile range {IQR}, 0.35]/1.18 [IQR, 0.24] seconds; P?<?0.01), a shorter glide phase (median, 1.09 [IQR, 0.25]/1.26 (IQR, 0.29) seconds; P?<?0.01), and higher angular velocity during the jerking motion. Symptoms remained constant irrespective of speed or extra mass around the ankle (P?>?0.05). No significant differences between legs were detected in the control group. Conclusions:Observed clinical, visual, and kinematic data could be an early and tentative indication of task-specific dystonia.
| S-EPMC6749809 | biostudies-literature
Project description:OBJECTIVE:The inability to propel a bolus of food successfully from the posterior part of the oral cavity to the oropharynx is defined as transfer dysphagia. The present case series describes the varied presentation of transfer dysphagia due to focal dystonia and highlights the importance of early detection by following up on strong suspicions. METHODS:We describe seven cases of transfer dysphagia due to focal dystonia. Transfer dysphagia as a form of focal dystonia may appear as the sole presenting complaint or may present with other forms of focal dystonia. RESULTS:Four out of seven patients had pure transfer dysphagia and had previously been treated for functional dysphagia. A high index of suspicion, barium swallow including videofluoroscopy, associated dystonia in other parts of the body and response to drug therapy with trihexyphenidyl/tetrabenazine helped to confirm the diagnosis. CONCLUSION:Awareness of these clinical presentations among neurologists and non-neurologists can facilitate an early diagnosis and prevent unnecessary investigations.
| S-EPMC6182304 | biostudies-literature
Project description:TOR1A encodes a chaperone-like AAA-ATPase whose Delta GAG (Delta E) mutation is responsible for an early onset, generalised dystonia syndrome. Because of the established role of the TOR1A gene in heritable generalised dystonia (DYT1), a potential genetic contribution of TOR1A to the more prevalent and diverse presentations of late onset, focal dystonia has been suggested.A novel TOR1A missense mutation (c.613T-->A, p.F205I) in a patient with late onset, focal dystonia is reported. The mutation occurs in a highly evolutionarily conserved region encoding the AAA-ATPase domain. Expression assays revealed that expression of F205I or Delta E, but not wildtype TOR1A, produced frequent intracellular inclusions.A novel, rare TOR1A variant has been identified in an individual with late onset, focal dystonia and evidence provided that the mutation impairs TOR1A function. Together these findings raise the possibility that this novel TOR1A variant may contribute to the expression of dystonia. In light of these findings, a more comprehensive genetic effort is warranted to identify the role of this and other rare TOR1A variants in the expression of late onset, focal dystonia.
| S-EPMC2891583 | biostudies-literature