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Journal of the American Dental... Sep 2022The aim of this study was to characterize clinical features of patients with oromandibular dystonia (OMD) who had temporomandibular disorder (TMD) symptoms.
BACKGROUND
The aim of this study was to characterize clinical features of patients with oromandibular dystonia (OMD) who had temporomandibular disorder (TMD) symptoms.
METHODS
A retrospective chart review of patients seeking treatment at a tertiary-level orofacial pain clinic from January 2015 through December 2020 was undertaken. The inclusionary criteria consisted of a diagnosis of OMD (International Classification of Diseases, Revision 10 code G24.4), which had been confirmed by a neurologist.
RESULTS
Eleven patients met the inclusion criteria. Focal dystonia and jaw deviation OMD were the most frequent diagnoses. A dental procedure was a triggering or aggravating factor in 36.4% of patients. All but 2 patients had a sensory trick, or tactile stimulus to a particular body part, and approximately one-half of the patients used an oral appliance as a sensory trick device. All but 1 patient had received a diagnosis of TMD, with myofascial pain of the masticatory muscles being the most prevalent diagnosis. Four patients had received a recommendation for orthodontic treatment. About one-half of the patients had undergone 1 or more invasive dental or maxillofacial surgical interventions to address their dystonia. Anxiety was the most common psychological comorbidity.
CONCLUSIONS
Because patients with OMD commonly experience TMD symptoms, they can receive a misdiagnosis of TMD while the OMD is overlooked.
PRACTICAL IMPLICATIONS
Owing to concomitant TMD symptoms, patients most often seek dental consultations and undergo treatments such as orthodontic interventions and temporomandibular joint surgeries. A dentist's competency in recognizing these patients can prevent unnecessary procedures and facilitate appropriate patient care.
Topics: Dystonia; Dystonic Disorders; Humans; Masticatory Muscles; Retrospective Studies; Temporomandibular Joint Disorders
PubMed: 34863506
DOI: 10.1016/j.adaj.2021.07.026 -
Seminars in Pediatric Neurology Jul 2021Dystonia is one of the most common pediatric movement disorders and can have a profound impact on the lives of children and their caregivers. Response to pharmacologic... (Review)
Review
Dystonia is one of the most common pediatric movement disorders and can have a profound impact on the lives of children and their caregivers. Response to pharmacologic treatment is often unsatisfactory. Deep brain stimulation (DBS) has emerged as a promising treatment option for children with medically refractory dystonia. In this review we highlight the relevant literature related to DBS for pediatric dystonia, with emphasis on the background, indications, prognostic factors, challenges, and future directions of pediatric DBS.
Topics: Child; Deep Brain Stimulation; Dystonia; Dystonic Disorders; Forecasting; Humans; Movement Disorders; Treatment Outcome
PubMed: 34183138
DOI: 10.1016/j.spen.2021.100896 -
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 -
Toxicon : Official Journal of the... Sep 2023Laryngeal dystonia is a task-specific movement disorder causing abnormal movement of the adductor or abductor muscles of the vocal folds. In 1984, Blitzer pioneered the...
Laryngeal dystonia is a task-specific movement disorder causing abnormal movement of the adductor or abductor muscles of the vocal folds. In 1984, Blitzer pioneered the first use of onabotulinum toxin A to treat this disorder. Over 1400 patients were diagnosed with laryngeal dystonia in the last thirty years. In this paper, we summarize their clinical and endoscopic findings as well as treatment results. We also summarize the underlying genetics of the disorder. 82% of patients were diagnosed with adductor type laryngeal dystonia and 17% of patients manifested an abductor laryngeal dystonia. Patients with adductor dystonia were treated with toxin to the thyroarytenoid muscles and those with abductor dystonia were treated with toxin to the posterior cricoarytenoid muscle. All patient achieved greater than 70% improvement in percent normal function. Laryngeal dystonia is a rare movement disorder of the larynx with an incidence of approximately 35.1 per 100,000 individuals (Simonyan et al., 2021). Presently, there is no cure for laryngeal dystonia, but botulinum toxin has shown significant success in treating the symptoms of the disorder.
Topics: Humans; Dystonia; Dystonic Disorders; Movement Disorders; Muscle, Skeletal
PubMed: 37647998
DOI: 10.1016/j.toxicon.2023.107258 -
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 -
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 -
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 -
Movement Disorders : Official Journal... Feb 2022Pathogenic variants in 5 genes (GCH1, TH, PTS, SPR, and QDPR), involved in dopamine/tetrahydrobiopterin biosynthesis or recycling, have been linked to Dopa-responsive... (Review)
Review
BACKGROUND
Pathogenic variants in 5 genes (GCH1, TH, PTS, SPR, and QDPR), involved in dopamine/tetrahydrobiopterin biosynthesis or recycling, have been linked to Dopa-responsive dystonia (DRD). Diagnosis and treatment are often delayed due to high between- and within-group variability.
OBJECTIVES
Comprehensively analyzed individual genotype, phenotype, treatment response, and biochemistry information.
METHODS
734 DRD patients and 151 asymptomatic GCH1 mutation carriers were included using an MDSGene systematic literature review and an automated classification approach to distinguish between different forms of monogenic DRDs.
RESULTS
Whereas dystonia, L-Dopa responsiveness, early age at onset, and diurnal fluctuations were identified as red flags, parkinsonism without dystonia was rarely reported (11%) and combined with dystonia in only 18% of patients. While sex was equally distributed in autosomal recessive DRD, there was female predominance in autosomal dominant DYT/PARK-GCH1 patients accompanied by a lower median age at onset and more dystonia in females compared to males. Accordingly, the majority of asymptomatic heterozygous GCH1 mutation carriers (>8 years of age) were males. Multiple other subgroup-specific characteristics were identified, showing high accuracy in the automated classification approach: Seizures and microcephaly were mostly seen in DYT/PARK-PTS, autonomic symptoms appeared commonly in DYT/PARK-TH and DYT/PARK-PTS, and sleep disorders and oculogyric crises in DYT/PARK-SPR. Biochemically, homovanillic acid and 5-hydroxyindoleacetic acid in CSF were reduced in most DRDs, but neopterin and biopterin were increased only in DYT/PARK-PTS and DYT/PARK-SPR. Hyperphenylalaninemia was seen in DYT/PARK-PTS, DYT/PARK-QDPR, and rarely reported in autosomal recessive DYT/PARK-GCH1.
CONCLUSIONS
Our indicators will help to specify diagnosis and accelerate start of treatment. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Topics: Dystonia; Dystonic Disorders; Female; GTP Cyclohydrolase; Genotype; Humans; Male; Phenotype
PubMed: 34908184
DOI: 10.1002/mds.28874