-
Tremor and Other Hyperkinetic Movements... Feb 2021Reports of drummers' dystonia are rare, particularly compared to the literature on dystonia in string, piano and brass players. Several cases of drummers' dystonia have...
BACKGROUND
Reports of drummers' dystonia are rare, particularly compared to the literature on dystonia in string, piano and brass players. Several cases of drummers' dystonia have been included in large series of multiple instrumentalists, but there are few reports comprised exclusively of drummers with musicians' dystonia. We present here a series of 12 drummers with task-specific, focal dystonia affecting their upper limbs while drumming and spanning multiple playing techniques and musical styles.
METHODS
We conducted a retrospective chart review of drummers with dystonia seen at academic Movement Disorders centers.
RESULTS
All 12 patients were male, and the majority eventually developed spread of dystonia to tasks other than drumming. Ten of the 12 had dystonia affecting their fingers, while 8/12 had dystonia affecting the wrist. Only 1/12 had involvement proximal to the wrist. Pharmacologic interventions were largely ineffective; 3 had some benefit from botulinum toxin injections, but this was limited by problematic weakness in one drummer.
DISCUSSION
The phenomenology in our series is concordant with prior reported cases, demonstrating frequent wrist involvement, though we also found that a greater proportion of patients had dystonia affecting the fingers. It could be hypothesized that different drumming techniques or musical styles modulate the relative risk of dystonic involvement of the different anatomical regions of the upper limb.
HIGHLIGHTS
Drummers' dystonia is one of the least common forms of musicians' dystonia, though this may reflect fewer numbers of these instrumentalists. We present the largest series of drummers' dystonia and review previously published cases. Our cohort, representing diverse drumming styles, showed frequent involvement of dystonia in the wrists and fingers.
Topics: Dystonia; Dystonic Disorders; Female; Humans; Male; Music; Retrospective Studies
PubMed: 33633869
DOI: 10.5334/tohm.577 -
Neurobiology of Disease Dec 2022Deep brain stimulation (DBS) conventionally target at basal ganglia or thalamic structures, modulating nodal points in the cortico-basal ganglia circuit, in order to... (Review)
Review
Deep brain stimulation (DBS) conventionally target at basal ganglia or thalamic structures, modulating nodal points in the cortico-basal ganglia circuit, in order to effectively treat various movement disorders, including Parkinson's disease, tremor and dystonia (especially mobile type dystonia). However, there are still some other movement disorders, such as dystonia (especially fixed type dystonia), ataxia and freezing of gait, which are not responding well to the current DBS therapy. Cerebellum, similar to basal ganglia, also plays a critical role in the pathophysiology of movement disorders. Deep cerebellar structures, such as dentate nucleus or superior cerebellar peduncle, are noticed for their potential role as treatment targets in movement disorders in recent years. With increasing evidences of animal DBS experiments, recent clinical human subject studies reported that some movement disorders patients not responding to DBS with conventional targets, may benefit significantly from cerebellar DBS. These pioneer study results are invaluable for understanding the clinical use of cerebellar DBS for treatment of movement disorders. We review the recent data of cerebellar DBS performed by different groups and summarize the indications, surgical targets, programming details and outcomes in these clinical reports. We then synthesize the current pathophysiological study of cerebellum on different movement disorders and discuss the potential mechanism of action of cerebellar DBS. In addition to basal ganglia, it is important to study new DBS targets in the cerebellum for more comprehensive treatment of movement disorders.
Topics: Animals; Humans; Deep Brain Stimulation; Dystonia; Parkinson Disease; Gait Disorders, Neurologic; Movement Disorders; Cerebellum; Dystonic Disorders
PubMed: 36265768
DOI: 10.1016/j.nbd.2022.105899 -
Progress in Neurobiology Nov 2019A line of evidence suggests that the pathophysiology of dystonia involves the striatum, whose activity is modulated among other neurotransmitters, by the dopaminergic... (Review)
Review
A line of evidence suggests that the pathophysiology of dystonia involves the striatum, whose activity is modulated among other neurotransmitters, by the dopaminergic system. However, the link between dystonia and dopamine appears complex and remains unclear. Here, we propose a physiological approach to investigate the clinical and experimental data supporting a role of the dopaminergic system in the pathophysiology of dystonic syndromes. Because dystonia is a disorder of motor routines, we first focus on the role of dopamine and striatum in procedural learning. Second, we consider the phenomenology of dystonia from every angle in order to search for features giving food for thought regarding the pathophysiology of the disorder. Then, for each dystonic phenotype, we review, when available, the experimental and imaging data supporting a connection with the dopaminergic system. Finally, we propose a putative model in which the different phenotypes could be explained by changes in the balance between the direct and indirect striato-pallidal pathways, a process critically controlled by the level of dopamine within the striatum. Search strategy and selection criteria References for this article were identified through searches in PubMed with the search terms « dystonia », « dopamine", « striatum », « basal ganglia », « imaging data », « animal model », « procedural learning », « pathophysiology », and « plasticity » from 1998 until 2018. Articles were also identified through searches of the authors' own files. Only selected papers published in English were reviewed. The final reference list was generated on the basis of originality and relevance to the broad scope of this review.
Topics: Animals; Basal Ganglia; Corpus Striatum; Dopamine; Dystonia; Dystonic Disorders; Humans; Neural Pathways
PubMed: 31404592
DOI: 10.1016/j.pneurobio.2019.101678 -
Neurobiology of Disease May 2022This review provides an overview of the synaptic dysfunctions of neuronal circuits and underlying neurochemical alterations observed in the hyperkinetic movement... (Review)
Review
This review provides an overview of the synaptic dysfunctions of neuronal circuits and underlying neurochemical alterations observed in the hyperkinetic movement disorders, dystonia and dyskinesia. These disorders exhibit similar changes in expression of synaptic plasticity and neuromodulation. This includes alterations in physical attributes of synapses, synaptic protein expression, and neurotransmitter systems, such as glutamate and gamma-aminobutyric acid (GABA), and neuromodulators, such as dopamine, acetylcholine, serotonin, adenosine, and endocannabinoids. A full understanding of the mechanisms and consequences of disruptions in synaptic function and plasticity will lend insight into the development of these disorders and new ways to combat maladaptive changes.
Topics: Antiparkinson Agents; Corpus Striatum; Dyskinesias; Dystonia; Dystonic Disorders; Humans; Levodopa
PubMed: 35139431
DOI: 10.1016/j.nbd.2022.105650 -
International Review of Neurobiology 2018Dystonia is a neurological disorder characterized by involuntary, repetitive movements. Although the precise mechanisms of dystonia development remain unknown, the... (Review)
Review
Dystonia is a neurological disorder characterized by involuntary, repetitive movements. Although the precise mechanisms of dystonia development remain unknown, the diversity of its clinical phenotypes is thought to be associated with multifactorial pathophysiology, which is linked not only to alterations of brain organization, but also environmental stressors and gene mutations. This chapter will present an overview of the pathophysiology of isolated dystonia through the lens of applications of major neuroimaging methodologies, with links to genetics and environmental factors that play a prominent role in symptom manifestation.
Topics: Brain; Dystonic Disorders; Gray Matter; Humans; Magnetic Resonance Imaging; Neuroimaging; Positron-Emission Tomography; White Matter
PubMed: 30473192
DOI: 10.1016/bs.irn.2018.09.007 -
Toxins Dec 2017Selection of muscles for botulinum toxin injection for limb dystonia is particularly challenging. Limb dystonias vary more widely in the pattern of dystonic movement and... (Review)
Review
Selection of muscles for botulinum toxin injection for limb dystonia is particularly challenging. Limb dystonias vary more widely in the pattern of dystonic movement and involved muscles than cervical dystonia or blepharospasm. The large variation in how healthy individuals perform skilled hand movements, the large number of muscles in the hand and forearm, and the presence of compensatory actions in patients with dystonia add to the complexity of choosing muscles for injection. In this article, we discuss approaches to selecting upper and lower extremity muscles for chemodenervation treatment of limb dystonia.
Topics: Botulinum Toxins; Dystonia; Dystonic Disorders; Humans; Muscles
PubMed: 29286305
DOI: 10.3390/toxins10010020 -
Developmental Medicine and Child... Feb 2023To evaluate early dystonic features in children and adolescents with SGCE-myoclonus-dystonia.
AIM
To evaluate early dystonic features in children and adolescents with SGCE-myoclonus-dystonia.
METHOD
In this cross-sectional study, 49 patients (26 females and 23 males) with SGCE-myoclonus-dystonia (aged 15y 2mo, SD 12y) with childhood-onset (2y 10mo, SD 1y 10mo) dystonia were examined using a standardized video recorded protocol. Dystonia was rated using the Writer's Cramp and Gait Dystonia Rating Scales. Disability and impairment for handwriting and walking were also rated.
RESULTS
Dystonia was present at rest (n=1), posture (n=12), and during specific motor tasks (n=45) such as writing (n=35), walking (n=23), and running (n=20). Most children reported disability while performing these tasks. Early dystonic patterns were identified for writer's cramp and gait dystonia, the latter named the 'circular shaking leg', 'dragging leg', and 'hobby-horse gait' patterns. Sensory tricks were used by five and eight children to improve dystonia and myoclonus during writing and walking respectively. The rating scales accurately measured the severity of action dystonia and correlated with self-reported disability.
INTERPRETATION
Children with SGCE-myoclonus-dystonia show recognizable dystonic patterns and sensory tricks that may lead to an early diagnosis and timely therapeutic approach. Isolated writer's cramp is a key feature in childhood and should prompt SCGE analysis. The proposed action dystonia scales could be used to monitor disease course and response to treatment.
WHAT THIS PAPER ADDS
Most children with SGCE-myoclonus-dystonia got writer's cramp and had walking and running dystonia. Writer's cramp was a key feature and should prompt SGCE genetic investigation. 'Circular shaking leg', 'dragging leg', and 'hobby-horse gait' were recognized as early gait patterns. Children used sensory tricks to improve myoclonus and dystonia, suggesting common pathophysiological mechanisms. Action dystonia rating scales are valid tools to assess severity in children.
Topics: Child; Female; Humans; Male; Cross-Sectional Studies; Dystonia; Dystonic Disorders; Movement Disorders; Myoclonus; Sarcoglycans
PubMed: 35723607
DOI: 10.1111/dmcn.15298 -
Arquivos de Neuro-psiquiatria Mar 2023
Topics: Humans; Dystonia; Deep Brain Stimulation; Dystonic Disorders; Treatment Outcome; Globus Pallidus
PubMed: 37059429
DOI: 10.1055/s-0043-1767763 -
European Journal of Paediatric... Jan 2022The high prevalence of mixed phenotypes of Early Onset Ataxia (EOA) with comorbid dystonia has shifted the pathogenetic concept from the cerebellum towards the... (Review)
Review
BACKGROUND
The high prevalence of mixed phenotypes of Early Onset Ataxia (EOA) with comorbid dystonia has shifted the pathogenetic concept from the cerebellum towards the interconnected cerebellar motor network. This paper on EOA with comorbid dystonia (EOA-dystonia) explores the conceptual relationship between the motor phenotype and the cortico-basal-ganglia-ponto-cerebellar network.
METHODS
In EOA-dystonia, we reviewed anatomic-, genetic- and biochemical-studies on the comorbidity between ataxia and dystonia.
RESULTS
In a clinical EOA cohort, the prevalence of dystonia was over 60%. Both human and animal studies converge on the underlying role for the cortico-basal-ganglia-ponto-cerebellar network. Genetic -clinical and -in silico network studies reveal underlying biological pathways for energy production and neural signal transduction.
CONCLUSIONS
EOA-dystonia phenotypes are attributable to the cortico-basal-ganglia-ponto-cerebellar network, instead of to the cerebellum, alone. The underlying anatomic and pathogenetic pathways have clinical implications for our understanding of the heterogeneous phenotype, neuro-metabolic and genetic testing and potentially also for new treatment strategies, including neuro-modulation.
Topics: Animals; Ataxia; Basal Ganglia; Cerebellum; Dystonia; Dystonic Disorders; Humans
PubMed: 34954622
DOI: 10.1016/j.ejpn.2021.12.001 -
Neurology India 2020Deep brain stimulation (DBS) is the most commonly used surgical treatment for drug-refractory movement disorders such as tremor and dystonia. Appropriate patient... (Review)
Review
Deep brain stimulation (DBS) is the most commonly used surgical treatment for drug-refractory movement disorders such as tremor and dystonia. Appropriate patient selection along with target selection is important to ensure optimal outcome without complications. This review summarizes the recent literature regarding the mechanism of action, indications, outcome, and complications of DBS in tremor and dystonia. A comparison with other modalities of surgical interventions is discussed along with a note of the recent advances in technology. Future research needs to be directed to understand the underlying etiopathogenesis of the disease and the way in which DBS modulates the intracranial abnormal networks.
Topics: Deep Brain Stimulation; Dystonia; Dystonic Disorders; Humans; Movement Disorders; Tremor
PubMed: 33318349
DOI: 10.4103/0028-3886.302472