Transient Idiopathic Dystonia in Infancy: A Clinical Case and Video Description.
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ABSTRACT:
SUBMITTER: Davico C
PROVIDER: S-EPMC6353361 | biostudies-literature | 2016 May-Jun
REPOSITORIES: biostudies-literature
Publications
Transient Idiopathic Dystonia in Infancy: A Clinical Case and Video Description.
Davico Chiara C Sotgiu Francesca F Canavese Carlotta C
Movement disorders clinical practice 20160118 3
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| S-EPMC5874472 | biostudies-literature
Project description:ObjectiveMusician's focal hand dystonia is a painless task-specific focal dystonia, which presents with involuntary movements, abnormal postures, and loss of fine motor dexterity. We report here the case of a 63-year-old male, percussionist, with african ethnicity, with musician's focal hand dystonia who was treated with botulinum toxin, and describe the results at 4-weeks follow up.MethodsClinical examination and video analysis revealed abnormal flexion of the 3rd finger, followed by flexion of the 4th and 5th fingers while playing the congas. Based on these findings, a diagnosis of musician's focal hand dystonia was established. Ten units of botulinum toxin were injected into the muscle fibres of the flexor digitorum superficialis corresponding to the 4th finger using electromyography and ultrasound guidance. Four weeks later, the patient reported a subjective 60% improvement in his performance. He emphasized the effect of botulinum toxin on performance speed and tension over the forearm and hand.ConclusionBotulinum toxin is not a definitive treatment for musician's focal hand dystonia, but it may potentiate other definitive rehabilitation techniques. More research is needed to determine the long-term effects of botulinum toxin on function enhancement in musician's focal hand dystonia.
| S-EPMC10953829 | biostudies-literature
Project description:Background:Lingual dystonia is extremely rare following stroke. We describe clinical features and neuroimaging findings in a series of 11 patients (seven acute and four chronic) with post-stroke lingual dystonia and review the literature. Methods:This was a case series using a preformed structured proforma and review of literature using a PubMed search. Results:In our case series, all patients had dysarthria as a presenting symptom. Seven patients had acute presentation (six had an ischemic infarct and one had thalamic hemorrhage) and four had chronic presentation (all had infarct). All patients except one had small infarcts, with the majority of them in the basal ganglia and subcortical white matter regions. Additional chronic ischemic lesions were seen in all patients with acute presentation. The majority of the patients with acute (five out of seven; 71.42%) presentation had left-sided involvement on imaging. We could identify only one case of acute post-stroke lingual dystonia following the PubMed search. Three other cases of post-stroke lingual dystonia with chronic presentation have been described; however, these were associated with oromandibular or cranial dystonia. Discussion:Our results, based on brain lesions, suggest that all lingual dystonia patients with acute infarcts had underlying chronic infarcts. Overall, more left-sided than right-sided strokes were observed with post-stroke lingual movement disorders including dystonia; however, the data were not significant (p = 1). All patients had dysarthria, with only one having mild tongue weakness and only four having facial weakness. This suggests that the lingual dystonia was responsible for the dysarthria rather than weakness in these patients.
| S-EPMC6329777 | biostudies-other
Project description:We report a case of acute dystonia of the face, jaw and tongue caused by metoclopramide and mimicking angioedema. The patient had attacks for several years before the correct diagnosis was made and we present the first ever published video footage of an attack. This adverse drug reaction is known, but might be underdiagnosed since it can mimic a wide range of other diseases.
| S-EPMC3736617 | biostudies-other
Project description:Diagnosing dystonia can be challenging and depends on the recognition of subtle clinical signs. Due to clinical heterogeneity, variable age at presentation, and overlapping features with other disorders, dystonia is under-recognized. The presence of dystonic tremor is often a reason for misdiagnosis. We report an illustrative case of a patient with DYT1 dystonia who was originally misdiagnosed with Parkinson disease. Careful physical examination and history-taking can reveal dystonia and prompt appropriate diagnostic studies, which, in turn, can lead to potentially life-changing treatment. Our report illustrates typical challenges in the recognition and diagnosis of dystonia, and serves to increase clinicians' awareness of this disabling, but treatable, condition.
| S-EPMC3863978 | biostudies-literature
Project description: Not available
| S-EPMC9338358 | biostudies-literature
Project description:BACKGROUND:We aimed to characterize the clinical and electrophysiological features of patients with slow orthostatic tremor. CASE REPORT:The clinical and neurophysiological data of patients referred for lower limb tremor on standing were reviewed. Patients with symptomatic or primary orthostatic tremor were excluded. Eight patients were identified with idiopathic slow 4-8 Hz orthostatic tremor, which was associated with tremor and dystonia in cervical and upper limb musculature. Coherence analysis in two patients showed findings different to those seen in primary orthostatic tremor. DISCUSSION:Slow orthostatic tremor may be associated with dystonia and dystonic tremor.
| S-EPMC4749092 | biostudies-literature
Project description:Smoothness (i.e. non-intermittency) of movement is a clinically important property of the voluntary movement with accuracy and proper speed. Resting head position and head voluntary movements are impaired in cervical dystonia. The current work aims to evaluate if the smoothness of voluntary head rotations is reduced in this disease. Twenty-six cervical dystonia patients and 26 controls completed rightward and leftward head rotations. Patients' movements were differentiated into "towards-dystonia" (rotation accentuated the torticollis) and "away-dystonia". Smoothness was quantified by the angular jerk and arc length of the spectrum of angular speed (i.e. SPARC, arbitrary units). Movement amplitude (mean, 95% CI) on the horizontal plane was larger in controls (63.8°, 58.3°-69.2°) than patients when moving towards-dystonia (52.8°, 46.3°-59.4°; P = 0.006). Controls' movements (49.4°/s, 41.9-56.9°/s) were faster than movements towards-dystonia (31.6°/s, 25.2-37.9°/s; P < 0.001) and away-dystonia (29.2°/s, 22.9-35.5°/s; P < 0.001). After taking into account the different amplitude and speed, SPARC-derived (but not jerk-derived) indices showed reduced smoothness in patients rotating away-dystonia (1.48, 1.35-1.61) compared to controls (1.88, 1.72-2.03; P < 0.001). Poor smoothness is a motor disturbance independent of movement amplitude and speed in cervical dystonia. Therefore, it should be assessed when evaluating this disease, its progression, and treatments.
| S-EPMC8948176 | biostudies-literature
Project description:BackgroundReviewers of dystonia rating scales agree on the need to assess symptoms more comprehensively. During the development of a quantitative dystonia assessment by video-perceptive computing, we devised a video-based severity ranking as a procedure to create a validation standard without the use of clinical scales.MethodsThirty-four patients with dystonia (17 with dystonic tremor) and 2 controls were assessed with clinical scales and video-recordings of 24 short movement tasks. Two to 4 raters compared multiple permutations of videos from 22 subjects, including 2 healthy controls, until a complete rank order was achieved. Inter-rater agreement was expressed as normalized Kendall tau distance. Spearman correlations of video rank order with clinical scales and self-rating were repeated for tremor/nontremor subgroups.ResultsNormalized Kendall tau distances were <0.3 for 15 items. The video rank order for sitting and head movements correlated with clinical scales for the whole group (rho 0.52-0.87) and in the subgroup without tremor. In the tremor subgroup such correlation was perceived in the 2 items involving sitting. Video rank order correlated with quality of life self-rating only in 1 item (arms held in front, palm down).ConclusionsThe agreement of video rankings between raters is remarkable. The lack of correlation in the tremor subgroup in several items may be interpreted as tremor being considered in video comparisons but not in clinical scales. This supports video-based ranking as a more comprehensive rating of dystonia and as a possible validation instrument applicable in situations in which no reference standard is available.
| S-EPMC6178604 | biostudies-literature
Project description:RationaleAlthough patients with central disorders of hypersomnolence (CDH) exhibit characteristic symptoms of hypersomnia frequently, it takes 5 to 15 years from the onset for its diagnosis due to the lack of symptom recognition. Here, we present a case of idiopathic hypersomnia (IH), a CDH, wherein early diagnosis was aided by a video footage of a spontaneous sleep attack.Patient concernsA 21-year-old man lost consciousness while driving and experienced an accident. He had complained of excessive daytime sleepiness (EDS) over half a year. During his hospitalization for close monitoring of the loss of consciousness, an in-room surveillance camera captured a 14-minutes long spontaneous sleep attack, during which he experienced general muscle weakness and loss of consciousness without warnings or convulsions leading to a fall from the bed. There were no abnormalities in vital signs.DiagnosesThere was no significant cataplexy and less than 2 sleep-onset rapid eye movements (SOREM) in 2 sleep latency tests, with a mean sleep latency of 2.1 and 4.6 minutes. Other sleep deprivation syndromes were excluded from differential diagnosis and finally, a diagnosis of IH was confirmed according to the criteria of the Third Edition of the International Classification of Sleep Disorders. During the course of the disease, attention-deficit/hyperactive disorder (ADHD) and a gaming disorder also diagnosed.InterventionsPharmacological treatment with modafinil was administered for IH and methylphenidate for ADHD. Cognitive behavioral therapy was performed for the gaming disorder.OutcomesThe EDS improved, and sleep attacks were no longer observed. The disruption of daily life caused by the gaming disorder was also reduced.LessonsVideo recordings of sleep attacks are beneficial for identifying the cause of loss of consciousness. Home video recordings may be helpful in the early diagnosis of IH.
| S-EPMC10869082 | biostudies-literature