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Clinical Neurophysiology : Official... Aug 2022Hyperkinesias are heterogeneous involuntary movements that significantly differ in terms of clinical and semeiological manifestations, including rhythm, regularity,... (Review)
Review
Hyperkinesias are heterogeneous involuntary movements that significantly differ in terms of clinical and semeiological manifestations, including rhythm, regularity, speed, duration, and other factors that determine their appearance or suppression. Hyperkinesias are due to complex, variable, and largely undefined pathophysiological mechanisms that may involve different brain areas. In this chapter, we specifically focus on dystonia, chorea and hemiballismus, and other dyskinesias, specifically, levodopa-induced, tardive, and cranial dyskinesia. We address the role of neurophysiological studies aimed at explaining the pathophysiology of these conditions. We mainly refer to human studies using surface and invasive in-depth recordings, as well as spinal, brainstem, and transcortical reflexology and non-invasive brain stimulation techniques. We discuss the extent to which the neurophysiological abnormalities observed in hyperkinesias may be explained by pathophysiological models. We highlight the most relevant issues that deserve future research efforts. The potential role of neurophysiological assessment in the clinical context of hyperkinesia is also discussed.
Topics: Chorea; Dyskinesias; Dystonia; Dystonic Disorders; Humans; Levodopa
PubMed: 35785630
DOI: 10.1016/j.clinph.2022.05.014 -
Practical Neurology Jan 2017Adams and Foley described asterixis in the 1940s in patients with hepatic encephalopathy, but it has since been associated with a wide range of potential causes, both in... (Review)
Review
Adams and Foley described asterixis in the 1940s in patients with hepatic encephalopathy, but it has since been associated with a wide range of potential causes, both in neurology and general medicine. Here, we review the history, characteristics and clinical significance of this important clinical sign.
Topics: Dyskinesias; Electromyography; Humans; Liver Diseases; Renal Insufficiency
PubMed: 27807107
DOI: 10.1136/practneurol-2016-001393 -
Zhurnal Nevrologii I Psikhiatrii Imeni... 2022Drugs that block dopaminergic transmission are currently widely used in the treatment of psychiatric diseases. One of the significant, common complications of therapy... (Review)
Review
Drugs that block dopaminergic transmission are currently widely used in the treatment of psychiatric diseases. One of the significant, common complications of therapy are tardive dyskinesias, which develop after prolonged, at least 3 months, therapy with antipsychotics and significantly reduce the quality of life of patients. Tardive dyskinesia is an extrapyramidal disorder, mainly manifested by involuntary hyperkinesis of the muscles of the face and tongue. These movements negatively affect the patient's daily activities and quality of life. This article reviews the currently available treatment strategies for this type of disorder. One of the promising methods is therapy with Normokinesin (tetrabenazine), which, by reducing dopaminergic stimulation of brain neurons, significantly reduces hyperkinesis.
Topics: Antipsychotic Agents; Dyskinesia, Drug-Induced; Humans; Mental Disorders; Quality of Life; Tardive Dyskinesia
PubMed: 35175700
DOI: 10.17116/jnevro202212201131 -
Journal of Neural Transmission (Vienna,... Apr 2021The paroxysmal dyskinesias are a diverse group of genetic disorders that manifest as episodic movements, with specific triggers, attack frequency, and duration. With... (Review)
Review
The paroxysmal dyskinesias are a diverse group of genetic disorders that manifest as episodic movements, with specific triggers, attack frequency, and duration. With recent advances in genetic sequencing, the number of genetic variants associated with paroxysmal dyskinesia has dramatically increased, and it is now evident that there is significant genotype-phenotype overlap, reduced (or incomplete) penetrance, and phenotypic variability. In addition, a variety of genetic conditions can present with paroxysmal dyskinesia as the initial symptom. This review will cover the 34 genes implicated to date and propose a diagnostic workflow featuring judicious use of whole-exome or -genome sequencing. The goal of this review is to provide a common understanding of paroxysmal dyskinesias so basic scientists, geneticists, and clinicians can collaborate effectively to provide diagnoses and treatments for patients.
Topics: Chorea; Dyskinesias; Humans; Exome Sequencing
PubMed: 33929620
DOI: 10.1007/s00702-021-02335-x -
Journal of Postgraduate Medicine 2016Asterixis is a type of negative myoclonus characterized by irregular lapses of posture of various body parts. It is an uncommon but important sign in clinical neurology.... (Review)
Review
Asterixis is a type of negative myoclonus characterized by irregular lapses of posture of various body parts. It is an uncommon but important sign in clinical neurology. Initially described as a "liver flap," its utility encompasses a galaxy of neurological and nonneurological situations. Asterixis has a rich history. Despite being described over 70 years ago, its exact pathogenesis remains unknown. Its significance as a tool for the evaluation and prognosis of encephalopathies has been suggested. This review presents its history, clinical implications and its significance.
Topics: Brain; Dyskinesias; Humans; Movement Disorders; Myoclonus
PubMed: 27089111
DOI: 10.4103/0022-3859.180572 -
Journal of Neuroscience Methods Feb 2020Hyperkinetic movement disorders include tremors, dystonia, chorea, tics, myoclonus, stereotypies, restless legs syndrome, and various other disorders with abnormal... (Review)
Review
Hyperkinetic movement disorders include tremors, dystonia, chorea, tics, myoclonus, stereotypies, restless legs syndrome, and various other disorders with abnormal involuntary movements. Although several disorders could be included in such a broad spectrum, a limited number of conditions are modeled in non-human primates. These disabling conditions include notably L-dopa-induced dyskinesia in Parkinson's disease, tardive dyskinesia, essential tremor and Huntington's disease. Non-human primate models of these conditions exist. This short opiniated review surveys the current state of use of these models as well as the future developments.
Topics: Animals; Chorea; Dystonia; Movement Disorders; Parkinson Disease; Primates; Tremor
PubMed: 31857131
DOI: 10.1016/j.jneumeth.2019.108551 -
Ugeskrift For Laeger Jul 2021This is a case report of a patient, who was diagnosed with epilepsy (atypical infantile convulsions) at the age of one year and unspecific myopathy at the age of three...
This is a case report of a patient, who was diagnosed with epilepsy (atypical infantile convulsions) at the age of one year and unspecific myopathy at the age of three years. At the age of 25 years, the patient was referred to a neuromuscular clinic due to myopathy, but the diagnose was changed to atypical infantile convulsions with seizures in adulthood and paroxysmal choreoathetosis due to a pathogenic variant c.970G>A, p. (Gly324Arg) in the PRRT2 gene.
Topics: Adult; Dyskinesias; Epilepsy, Benign Neonatal; Humans; Infant; Membrane Proteins; Mutation; Nerve Tissue Proteins; Pedigree
PubMed: 34356019
DOI: No ID Found -
Instructional Course Lectures 2024It is important to discuss the importance of synchronous balance between periscapular muscles for scapulothoracic motion and resultant scapulohumeral rhythm....
It is important to discuss the importance of synchronous balance between periscapular muscles for scapulothoracic motion and resultant scapulohumeral rhythm. Abnormalities in this balance can lead to scapular dyskinesia and winging, affecting shoulder motion and leading to impingement. Strategies exist to diagnose and differentiate between pathologies such as muscle paralysis (eg, trapezius or serratus anterior) or overactivity (eg, pectoralis minor). The physician should be aware of the role of diagnostic imaging, as well as the unique considerations for patients with Ehlers-Danlos syndrome. Overall, a comprehensive physical examination to accurately diagnose and treat scapular pathologies is particularly important.
Topics: Humans; Electromyography; Scapula; Shoulder; Muscle, Skeletal; Dyskinesias
PubMed: 38090928
DOI: No ID Found -
Neurology India 2023
Topics: Humans; Chorea; Dyskinesias; Hyperglycemic Hyperosmolar Nonketotic Coma
PubMed: 37635540
DOI: 10.4103/0028-3886.383864 -
Movement Disorders : Official Journal... Apr 2023Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by recurrent and transient episodes of involuntary movements, including dystonia, chorea,... (Review)
Review
Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by recurrent and transient episodes of involuntary movements, including dystonia, chorea, ballism, or a combination of these, which are typically triggered by sudden voluntary movement. Disturbance of the basal ganglia-thalamo-cortical circuit has long been considered the cause of involuntary movements. Impairment of the gating function of the basal ganglia can cause an aberrant output toward the thalamus, which in turn leads to excessive activation of the cerebral cortex. Structural and functional abnormalities in the basal ganglia, thalamus, and cortex and abnormal connections between these brain regions have been found in patients with PKD. Recent studies have highlighted the role of the cerebellum in PKD. Insufficient suppression from the cerebellar cortex to the deep cerebellar nuclei could lead to overexcitation of the thalamocortical pathway. Therefore, this literature review aims to provide a comprehensive overview of the current research progress to explore the neural circuits and pathogenesis of PKD and promote further understanding and outlook on the pathophysiological mechanism of movement disorders. © 2023 International Parkinson and Movement Disorder Society.
Topics: Humans; Dystonia; Movement Disorders; Chorea; Dyskinesias
PubMed: 36718795
DOI: 10.1002/mds.29326