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Continuum (Minneapolis, Minn.) Oct 2022This article discusses the most recent findings regarding the diagnosis, classification, and management of genetic and idiopathic dystonia. (Review)
Review
PURPOSE OF REVIEW
This article discusses the most recent findings regarding the diagnosis, classification, and management of genetic and idiopathic dystonia.
RECENT FINDINGS
A new approach to classifying dystonia has been created with the aim to increase the recognition and diagnosis of dystonia. Molecular biology and genetic studies have identified several genes and biological pathways involved in dystonia.
SUMMARY
Dystonia is a common movement disorder involving abnormal, often twisting, postures and is a challenging condition to diagnose. The pathophysiology of dystonia involves abnormalities in brain motor networks in the context of genetic factors. Dystonia has genetic, idiopathic, and acquired forms, with a wide phenotypic spectrum, and is a common feature in complex neurologic disorders. Dystonia can be isolated or combined with another movement disorder and may be focal, segmental, multifocal, or generalized in distribution, with some forms only occurring during the performance of specific tasks (task-specific dystonia). Dystonia is classified by clinical characteristics and presumed etiology. The management of dystonia involves accurate diagnosis, followed by treatment with botulinum toxin injections, oral medications, and surgical therapies (mainly deep brain stimulation), as well as pathogenesis-directed treatments, including the prospect of disease-modifying or gene therapies.
Topics: Botulinum Toxins; Brain; Dystonia; Dystonic Disorders; Humans; Movement Disorders
PubMed: 36222773
DOI: 10.1212/CON.0000000000001159 -
Journal of Neural Transmission (Vienna,... Apr 2021A plethora of heterogeneous movement disorders is grouped under the umbrella term dystonia. The clinical presentation ranges from isolated dystonia to multi-systemic... (Review)
Review
A plethora of heterogeneous movement disorders is grouped under the umbrella term dystonia. The clinical presentation ranges from isolated dystonia to multi-systemic disorders where dystonia is only a co-occurring sign. In the past, definitions, nomenclature, and classifications have been repeatedly refined, adapted, and extended to reflect novel findings and increasing knowledge about the clinical, etiologic, and scientific background of dystonia. Currently, dystonia is suggested to be classified according to two axes. The first axis offers precise categories for the clinical presentation grouped into age at onset, body distribution, temporal pattern and associated features. The second, etiologic, axis discriminates pathological findings, as well as inheritance patterns, mode of acquisition, or unknown causality. Furthermore, the recent recommendations regarding terminology and nomenclature of inherited forms of dystonia and related syndromes are illustrated in this article. Harmonized, specific, and internationally widely used classifications provide the basis for future systematic dystonia research, as well as for more personalized patient counseling and treatment approaches.
Topics: Age of Onset; Causality; Dystonia; Dystonic Disorders; Humans; Movement Disorders
PubMed: 33604773
DOI: 10.1007/s00702-021-02314-2 -
Journal of Neural Transmission (Vienna,... Apr 2021Botulinum toxin (BT) is used to treat a large number of muscle hyperactivity syndromes. Its use in dystonia, however, is still one of the most important indications for... (Review)
Review
Botulinum toxin (BT) is used to treat a large number of muscle hyperactivity syndromes. Its use in dystonia, however, is still one of the most important indications for BT therapy. When BT is injected into dystonic muscles, it produces a peripheral paresis which is localised, well controllable and follows a distinct and predictable time course of around 3 months. Adverse effects are always transient and usually mild, long-term application is safe. With this profile BT can be used to treat cranial dystonia, cervical dystonia and limb dystonia including writer's and musician's cramps. The recent introduction of BT high dose therapy also allows to treat more wide-spread dystonia including segmental and generalised dystonia. BT can easily be combined with other anti-dystonic treatments such as deep brain stimulation and intrathecal baclofen application. Best treatment results are obtained when BT therapy is integrated in the multimodal and long-term 'multilayer concept of treatment of dystonia'. The biggest challenge for the future will be to deliver state of the art BT therapy to all dystonia patients in need, regardless of whether they live in developed countries or beyond.
Topics: Botulinum Toxins; Botulinum Toxins, Type A; Dystonic Disorders; Humans; Muscles; Torticollis; Treatment Outcome
PubMed: 33125571
DOI: 10.1007/s00702-020-02266-z -
Indian Pediatrics Sep 2021Movement disorders represent a common presentation in pediatrics and are often a source of clinical and diagnostic dilemmas. In this review, we provide an overview of... (Review)
Review
CONTEXT
Movement disorders represent a common presentation in pediatrics and are often a source of clinical and diagnostic dilemmas. In this review, we provide an overview of common causes along with simplified clinical approach and management options for major movement disorders.
SOURCES
This narrative review is based on contemporary evidence and personal experience. Medline was searched for recent advances, current understanding and consensus on classification, clinical features, diagnosis and treatment.
RESULTS
Movement disorders are classified as hyperkinetic and hypokinetic disorders, the latter being rare in childhood. The hyperkinetic disorders include dystonia, chorea, athetosis, tics and tremor, stereotypies, myoclonus, startle syndromes and functional disorders. Some movement disorders can be benign and developmental. A large proportion of conditions are genetic in origin with a guarded prognosis. Some of the conditions may be post-infectious, immune-mediated or drug induced. Multiple types of movement disorders are present in many conditions. The age at onset, type and distribution of abnormal movements and presence of associated neurological and systemic features help in narrowing the differential diagnosis. The pharmacotherapy of movement disorders is complex and evolving.
CONCLUSION
A synopsis of movement disorders presenting in pediatric age has been provided, incorporating the latest evidence. A simplified approach for clinical diagnosis has been developed for dystonia and chorea.
Topics: Child; Diagnosis, Differential; Dystonia; Dystonic Disorders; Humans; Movement Disorders; Tremor
PubMed: 34016797
DOI: No ID Found -
Annual Review of Pathology Jan 2024Dystonia is a clinically and genetically highly heterogeneous neurological disorder characterized by abnormal movements and postures caused by involuntary sustained or... (Review)
Review
Dystonia is a clinically and genetically highly heterogeneous neurological disorder characterized by abnormal movements and postures caused by involuntary sustained or intermittent muscle contractions. A number of groundbreaking genetic and molecular insights have recently been gained. While they enable genetic testing and counseling, their translation into new therapies is still limited. However, we are beginning to understand shared pathophysiological pathways and molecular mechanisms. It has become clear that dystonia results from a dysfunctional network involving the basal ganglia, cerebellum, thalamus, and cortex. On the molecular level, more than a handful of, often intertwined, pathways have been linked to pathogenic variants in dystonia genes, including gene transcription during neurodevelopment (e.g., , ), calcium homeostasis (e.g., , ), striatal dopamine signaling (e.g., ), endoplasmic reticulum stress response (e.g., , , ), autophagy (e.g., ), and others. Thus, different forms of dystonia can be molecularly grouped, which may facilitate treatment development in the future.
Topics: Humans; Dystonia; Dystonic Disorders; Dopamine; Molecular Chaperones; DNA-Binding Proteins; Apoptosis Regulatory Proteins; Anoctamins
PubMed: 37738511
DOI: 10.1146/annurev-pathmechdis-051122-110756 -
Tremor and Other Hyperkinetic Movements... 2021Task-specific dystonia (TSD) is a form of focal dystonia that occurs in the context of the performance of selective, highly skilled, often repetitive, motor activity.... (Review)
Review
BACKGROUND
Task-specific dystonia (TSD) is a form of focal dystonia that occurs in the context of the performance of selective, highly skilled, often repetitive, motor activity. TSD may be apparent during certain tasks such as writing, playing musical instruments, or other activities requiring fine motor control, but may also occur during certain sports, and maybe detrimental to professional athletes' careers. Therefore, sports physicians and movement disorder neurologists need to be aware of the presentation and phenomenology of sports-related dystonia (SRD), the topic of this review.
METHODS
A broad PubMed search using a wide range of keywords and combinations was done in October 2021 to identify suitable articles for this review.
RESULTS
Most of the publications are on yips in golfers and on runners' dystonia. Other sports in which SRD has been reported are ice skating, tennis, table tennis, pistol shooting, petanque, baseball, and billiards.
DISCUSSION
Yips, which may affect up to half of the golfers and rarely athletes in other sports (e.g., baseball, cricket, basketball, speed skating, gymnastics) seems to be a multi-factorial form of TSD that is particularly troublesome in highly skilled professional golfers. Runners' dystonia, affecting the foot, leg, and hip (in decreasing order), may evolve into more generalized and less specific dystonia. The pathophysiologic mechanisms of SRD are not well understood. Botulinum toxin has been reported to alleviate dystonia in golfers', runners', and other forms of SRD. Future studies should utilize neurophysiologic, imaging, and other techniques to elucidate mechanisms of this underrecognized group of movement disorders.
Topics: Dystonia; Dystonic Disorders; Golf; Humans; Movement Disorders
PubMed: 35036047
DOI: 10.5334/tohm.670 -
Continuum (Minneapolis, Minn.) Aug 2019This article provides a summary of the state of the art in the diagnosis, classification, etiologies, and treatment of dystonia. (Review)
Review
PURPOSE OF REVIEW
This article provides a summary of the state of the art in the diagnosis, classification, etiologies, and treatment of dystonia.
RECENT FINDINGS
Although many different clinical manifestations of dystonia have been recognized for decades, it is only in the past 5 years that a broadly accepted approach has emerged for classifying them into specific subgroups. The new classification system aids clinical recognition and diagnosis by focusing on key clinical features that help distinguish the many subtypes. In the past few years, major advances have been made in the discovery of new genes as well as advances in our understanding of the biological processes involved. These advances have led to major changes in strategies for diagnosis of the inherited dystonias. An emerging trend is to move away from heavy reliance on the phenotype to target diagnostic testing toward a broader approach that involves large gene panels or whole exome sequencing.
SUMMARY
The dystonias are a large family of phenotypically and etiologically diverse disorders. The diagnosis of these disorders depends on clinical recognition of characteristic clinical features. Symptomatic treatments are useful for all forms of dystonia and include oral medications, botulinum toxins, and surgical procedures. Determination of etiology is becoming increasingly important because the number of disorders is growing and more specific and sometimes disease-modifying therapies now exist.
Topics: Acetylcholine Release Inhibitors; Adult; Botulinum Toxins; Carbidopa; Dopamine Agonists; Drug Combinations; Dystonia; Dystonic Disorders; Female; Humans; Levodopa; Middle Aged; Physical Therapy Modalities
PubMed: 31356290
DOI: 10.1212/CON.0000000000000747 -
No Shinkei Geka. Neurological Surgery Jul 2021Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements or postures. Currently,...
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements or postures. Currently, dystonia is defined as a network disorder involving the basal ganglia, cerebellum, thalamus, and sensorimotor cortex. Considering that it is refractory to medical therapy, functional neurosurgery is indispensable in the treatment strategy for dystonia. Functional neurosurgery may improve dystonic symptoms by suppressing abnormal neuronal activity in the motor loop network. Deep brain stimulation(DBS)of the globus pallidus internus(GPi)is a useful surgical treatment for genetically defined and primary dystonia involving the axial musculature. Thalamic ventral oral(Vo)nucleus surgery is recommended for cases of peripheral dystonia, such as writer's cramp and other occupational types of dystonia. However, pallidal DBS is less effective in cases of secondary dystonia, with the exception of tardive dystonia. Recent studies have reevaluated that ablation surgery is the last-resort treatment when DBS must be discontinued for certain conditions. Magnetic resonance-guided focused ultrasound(MRgFUS), a novel, incision-free, ablation technique, is currently used for the treatment of focal hand dystonia.
Topics: Deep Brain Stimulation; Dystonia; Dystonic Disorders; Globus Pallidus; Humans; Magnetic Resonance Imaging
PubMed: 34376609
DOI: 10.11477/mf.1436204455 -
Journal of Neural Transmission (Vienna,... Mar 2021Botulinum toxin (BT) therapy is a complex and highly individualised therapy defined by treatment algorithms and injection schemes describing its target muscles and their...
Botulinum toxin (BT) therapy is a complex and highly individualised therapy defined by treatment algorithms and injection schemes describing its target muscles and their dosing. Various consensus guidelines have tried to standardise and to improve BT therapy. We wanted to update and improve consensus guidelines by: (1) Acknowledging recent advances of treatment algorithms. (2) Basing dosing tables on statistical analyses of real-life treatment data of 1831 BT injections in 36 different target muscles in 420 dystonia patients and 1593 BT injections in 31 different target muscles in 240 spasticity patients. (3) Providing more detailed dosing data including typical doses, dose variabilities, and dosing limits. (4) Including total doses and target muscle selections for typical clinical entities thus adapting dosing to different aetiologies and pathophysiologies. (5) In addition, providing a brief and concise review of the clinical entity treated together with general principles of its BT therapy. For this, we collaborated with IAB-Interdisciplinary Working Group for Movement Disorders which invited an international panel of experts for the support.
Topics: Algorithms; Botulinum Toxins; Botulinum Toxins, Type A; Dystonia; Dystonic Disorders; Humans; Muscle Spasticity
PubMed: 33635442
DOI: 10.1007/s00702-021-02312-4 -
Handbook of Clinical Neurology 2023Dystonia is a hyperkinetic movement disorder with a unique motor phenomenology that can manifest as an isolated clinical syndrome or combined with other neurological... (Review)
Review
Dystonia is a hyperkinetic movement disorder with a unique motor phenomenology that can manifest as an isolated clinical syndrome or combined with other neurological features. This chapter reviews the characteristic features of dystonia phenomenology and the syndromic approach to evaluating the disorders that may allow us to differentiate the isolated and combined syndromes. We also present the most common types of isolated and combined dystonia syndromes. Since accelerated gene discoveries have increased our understanding of the molecular mechanisms of dystonia pathogenesis, we also present isolated and combined dystonia syndromes by shared biological pathways. Examples of these converging mechanisms of the isolated and combined dystonia syndromes include (1) disruption of the integrated response pathway through eukaryotic initiation factor 2 alpha signaling, (2) disease of dopaminergic signaling, (3) alterations in the cerebello-thalamic pathway, and (4) disease of protein mislocalization and stability. The discoveries that isolated and combined dystonia syndromes converge in shared biological pathways will aid in the development of clinical trials and therapeutic strategies targeting these convergent molecular pathways.
Topics: Humans; Dystonia; Syndrome; Dystonic Disorders; Cerebellum; Dopamine
PubMed: 37620082
DOI: 10.1016/B978-0-323-98817-9.00005-3