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Toxins Apr 2022Various movement disorders, such as oromandibular dystonia, oral dyskinesia, bruxism, functional (psychogenic) movement disorder, and tremors, exist in the... (Review)
Review
Various movement disorders, such as oromandibular dystonia, oral dyskinesia, bruxism, functional (psychogenic) movement disorder, and tremors, exist in the stomatognathic system. Most patients experiencing involuntary movements due to these disorders visit dentists or oral surgeons, who may be the first healthcare providers. However, differential diagnoses require neurological and dental knowledge. This study aimed to review scientific advances in botulinum toxin therapy for these conditions. The results indicated that botulinum toxin injection is effective and safe, with few side effects in most cases when properly administered by an experienced clinician. The diagnosis and treatment of movement disorders in the stomatognathic system require both neurological and dental or oral surgical knowledge and skills, and well-designed multicenter trials with a multidisciplinary team approach must be necessary to ensure accurate diagnosis and proper treatment.
Topics: Botulinum Toxins; Botulinum Toxins, Type A; Dyskinesias; Dystonia; Dystonic Disorders; Humans; Movement Disorders; Stomatognathic System
PubMed: 35448891
DOI: 10.3390/toxins14040282 -
Tremor and Other Hyperkinetic Movements... 2023This study aimed to determine the demographic and clinical characteristics of patients with oromandibular dystonia (OMD).
OBJECTIVE
This study aimed to determine the demographic and clinical characteristics of patients with oromandibular dystonia (OMD).
BACKGROUND
Dystonia is a movement disorder characterized by sustained involuntary muscle contractions that often cause abnormal postures. OMD is a rare focal dystonia that affects the tongue, jaw, and mouth. OMD, which is a rare public health problem, is often recognized as psychogenic and there are delays in its diagnosis and treatment.
METHODS
Patients with OMD, both isolated and combined, followed at our Movement Disorders Outpatient Clinic between 2004 and 2021 were enrolled in this study. Age, sex, age at onset, and disease duration were recorded. The type of OMD, affected muscles, etiologies of accompanying neurological disorders, and treatment were noted.
RESULTS
A total of 82 patients (44 women, 38 men) were included in this study. Among these, 39 patients had isolated OMD, and 43 patients had either segmental or generalized dystonia. Seven patients reported a family history of dystonia. Only nine patients reported a sensory trick. The average disease duration was 6.01 ± 3.73 (range, 1-29) years, and the average age at onset was 43.34 ± 18.24 (range, 1-78) years. The disease etiology was unknown (idiopathic) in most patients. Fifteen patients reported task-specific dystonia. The most common type of dystonia was jaw-opening dystonia.
CONCLUSION
OMD is focal dystonia that significantly affects the quality of life. This study adds more data to the literature by defining the clinical features of this rare disorder and draws attention to this neglected type of dystonia.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Female; Humans; Infant; Male; Middle Aged; Young Adult; Dystonia; Dystonic Disorders; Movement Disorders; Neuromuscular Agents; Quality of Life
PubMed: 36789171
DOI: 10.5334/tohm.730 -
Journal of the Neurological Sciences Aug 2022Blepharospasm is one of the most common subtypes of dystonia, and often spreads to other body regions. Despite published guidelines, the approach to diagnosis and...
BACKGROUND
Blepharospasm is one of the most common subtypes of dystonia, and often spreads to other body regions. Despite published guidelines, the approach to diagnosis and classification of affected body regions varies among clinicians.
OBJECTIVE
To delineate the clinical features used by movement disorder specialists in the diagnosis and classification of blepharospasm according to body regions affected, and to develop recommendations for a more consistent approach.
METHODS
Cross-sectional data for subjects diagnosed with all types of isolated dystonia were acquired from the Dystonia Coalition, an international, multicenter collaborative research network. Data were evaluated to determine how examinations recorded by movement disorder specialists were used to classify blepharospasm as focal, segmental, or multifocal.
RESULTS
Among all 3222 participants with isolated dystonia, 210 (6.5%) had a diagnosis of focal blepharospasm. Among these 210 participants, 34 (16.2%) had dystonia outside of upper face region. Factors such as dystonia severity across different body regions and number of body regions affected influenced the classification of blepharospasm as focal, segmental, or multifocal.
CONCLUSIONS
Although focal blepharospasm is the second most common type of dystonia, a high percentage of individuals given this diagnosis had dystonia outside of the eye/upper face region. These findings are not consistent with existing guidelines for the diagnosis and classification of focal blepharospasm, and point to the need for more specific guidelines for more consistent application of existing recommendations for diagnosis and classification.
Topics: Blepharospasm; Cross-Sectional Studies; Dystonia; Dystonic Disorders; Humans
PubMed: 35716653
DOI: 10.1016/j.jns.2022.120319 -
Journal of Neurology Dec 2022The prevalence of dystonia has been studied since the 1980s. Due to different methodologies and due to varying degrees of awareness, resulting figures have been...
The prevalence of dystonia has been studied since the 1980s. Due to different methodologies and due to varying degrees of awareness, resulting figures have been extremely different. We wanted to determine the prevalence of dystonia according to its current definition, using quality-approved registries and based on its relevance for patients, their therapy and the health care system. We applied a service-based chart review design with the City of Hannover as reference area and a population of 525,731. Barrier-free comprehensive dystonia treatment in few highly specialised centres for the last 30 years should have generated maximal dystonia awareness, a minimum of unreported cases and a high degree of data homogeneity. Prevalence [n/1mio] and relative frequency is 601.1 (100%) for all forms of dystonia, 251.1 (42%) for cervical dystonia, 87.5 (15%) for blepharospasm, 55.2 (9%) for writer's cramp, 38.0 (6%) for tardive dystonia, 32.3 (5%) for musician's dystonia, 28.5 (5%) for psychogenic dystonia, 26.6 (4%) for generalised dystonia, 24.7 (4%) for spasmodic dysphonia, 20.9 (3%) for segmental dystonia, 15.2 (3%) for arm dystonia and 13.3 (2%) for oromandibular dystonia. Leg dystonia, hemidystonia and complex regional pain syndrome-associated dystonia are very rare. Compared to previous meta-analytical data, primary or isolated dystonia is 3.3 times more frequent in our study. When all forms of dystonia including psychogenic, generalised, tardive and other symptomatic dystonias are considered, our dystonia prevalence is 3.7 times higher than believed before. The real prevalence is likely to be even higher. Having based our study on treatment necessity, our data will allow better allocation of resources for comprehensive dystonia treatment.
Topics: Humans; Dystonic Disorders; Blepharospasm; Torticollis; Prevalence
PubMed: 35948800
DOI: 10.1007/s00415-022-11310-9 -
F1000Research 2020Oromandibular dystonia is defined as a focal dystonia that manifests as forceful contractions of the face, jaw, and/or tongue. Lingual dystonia is a rare subtype of...
Oromandibular dystonia is defined as a focal dystonia that manifests as forceful contractions of the face, jaw, and/or tongue. Lingual dystonia is a rare subtype of oromandibular dystonia that specifically affects the tongue. Multiple etiologies are thought to attribute to oromandibular dystonia, including brain damage, the use of neuroleptic medications, neurodegenerative disorders, metabolic disorders, neurodevelopmental disorders, and viral infections. Idiopathic cases of isolated lingual dystonia are rare and seldom reported in the literature. This report describes a 35-year-old female patient with lingual dystonia that was present at rest and aggravated during speech. Despite detailed history taking and a thorough examination, along with multiple imaging and laboratory studies, no cause could be established and her case was classified as being that of an idiopathic etiology.
Topics: Adult; Dystonic Disorders; Female; Humans; Magnetic Resonance Imaging; Tongue
PubMed: 33145008
DOI: 10.12688/f1000research.23237.2 -
Neurology Nov 2022Brain lesions are a well-recognized etiology of dystonia. These cases are especially valuable because they offer causal insight into the neuroanatomical substrates of...
BACKGROUND AND OBJECTIVES
Brain lesions are a well-recognized etiology of dystonia. These cases are especially valuable because they offer causal insight into the neuroanatomical substrates of dystonia. To date, knowledge of lesion-induced dystonia comes mainly from isolated case reports or small case series, restricting broader description and analysis.
METHODS
Cases of lesion-induced dystonia were first identified from a systematic review of published literature. Latent class analysis then investigated whether patients could be classified into subgroups based on lesion location and body regions affected by dystonia. Regression analyses subsequently investigated whether subgroup membership predicted clinical characteristics of dystonia.
RESULTS
Three hundred fifty-nine published cases were included. Lesions causing dystonia occurred in heterogeneous locations, most commonly in the basal ganglia (46.2%), followed by the thalamus (28.1%), brainstem (22.6%), and white matter (21.2%). The most common form of lesion-induced dystonia was focal dystonia (53.2%), with the hand (49.9%) and arm (44.3%) most commonly affected. Of all cases, 86.6% reported co-occurring neurologic manifestations and 26.1% reported other movement disorders. Latent class analysis identified 3 distinct subgroups of patients: those with predominantly limb dystonias, which were associated with basal ganglia lesions; those with hand dystonia, associated with thalamic lesions; and those with predominantly cervical dystonia, associated with brainstem and cerebellar lesions. Regression demonstrated significant differences between these subgroups on a range of dystonia symptoms, including dystonic tremor, symptom latency, other movement disorders, and dystonia variability.
DISCUSSION
Although dystonia can be induced by lesions to numerous brain regions, there are distinct relationships between lesion locations and dystonic body parts. This suggests that the affected brain networks are different between types of dystonia.
Topics: Humans; Dystonic Disorders; Basal Ganglia; Movement Disorders; Brain; Torticollis
PubMed: 35977840
DOI: 10.1212/WNL.0000000000201042 -
Pflugers Archiv : European Journal of... Oct 2023Deep brain stimulation (DBS), a treatment for modulating the abnormal central neuronal circuitry, has become the standard of care nowadays and is sometimes the only... (Review)
Review
Deep brain stimulation (DBS), a treatment for modulating the abnormal central neuronal circuitry, has become the standard of care nowadays and is sometimes the only option to reduce symptoms of movement disorders such as dystonia. However, on the one hand, there are still open questions regarding the pathomechanisms of dystonia and, on the other hand, the mechanisms of DBS on neuronal circuitry. That lack of knowledge limits the therapeutic effect and makes it hard to predict the outcome of DBS for individual dystonia patients. Finding electrophysiological biomarkers seems to be a promising option to enable adapted individualised DBS treatment. However, biomarker search studies cannot be conducted on patients on a large scale and experimental approaches with animal models of dystonia are needed. In this review, physiological findings of deep brain stimulation studies in humans and animal models of dystonia are summarised and the current pathophysiological concepts of dystonia are discussed.
Topics: Animals; Humans; Dystonia; Deep Brain Stimulation; Dystonic Disorders; Electrophysiological Phenomena; Models, Animal
PubMed: 37530804
DOI: 10.1007/s00424-023-02845-5 -
Brain : a Journal of Neurology Jun 2023There is a lack of imaging markers revealing the functional characteristics of different brain regions in paediatric dystonia. In this observational study, we assessed... (Observational Study)
Observational Study
There is a lack of imaging markers revealing the functional characteristics of different brain regions in paediatric dystonia. In this observational study, we assessed the utility of [18F]2-fluoro-2-deoxy-D-glucose (FDG)-PET in understanding dystonia pathophysiology by revealing specific resting awake brain glucose metabolism patterns in different childhood dystonia subgroups. PET scans from 267 children with dystonia being evaluated for possible deep brain stimulation surgery between September 2007 and February 2018 at Evelina London Children's Hospital (ELCH), UK, were examined. Scans without gross anatomical abnormality (e.g. large cysts, significant ventriculomegaly; n = 240) were analysed with Statistical Parametric Mapping (SPM12). Glucose metabolism patterns were examined in the 144/240 (60%) cases with the 10 commonest childhood-onset dystonias, focusing on nine anatomical regions. A group of 39 adult controls was used for comparisons. The genetic dystonias were associated with the following genes: TOR1A, THAP1, SGCE, KMT2B, HPRT1 (Lesch Nyhan disease), PANK2 and GCDH (Glutaric Aciduria type 1). The acquired cerebral palsy (CP) cases were divided into those related to prematurity (CP-Preterm), neonatal jaundice/kernicterus (CP-Kernicterus) and hypoxic-ischaemic encephalopathy (CP-Term). Each dystonia subgroup had distinct patterns of altered FDG-PET uptake. Focal glucose hypometabolism of the pallidi, putamina or both, was the commonest finding, except in PANK2, where basal ganglia metabolism appeared normal. HPRT1 uniquely showed glucose hypometabolism across all nine cerebral regions. Temporal lobe glucose hypometabolism was found in KMT2B, HPRT1 and CP-Kernicterus. Frontal lobe hypometabolism was found in SGCE, HPRT1 and PANK2. Thalamic and brainstem hypometabolism were seen only in HPRT1, CP-Preterm and CP-term dystonia cases. The combination of frontal and parietal lobe hypermetabolism was uniquely found in CP-term cases. PANK2 cases showed a distinct combination of parietal hypermetabolism with cerebellar hypometabolism but intact putaminal-pallidal glucose metabolism. HPRT1, PANK2, CP-kernicterus and CP-preterm cases had cerebellar and insula glucose hypometabolism as well as parietal glucose hypermetabolism. The study findings offer insights into the pathophysiology of dystonia and support the network theory for dystonia pathogenesis. 'Signature' patterns for each dystonia subgroup could be a useful biomarker to guide differential diagnosis and inform personalized management strategies.
Topics: Adult; Infant, Newborn; Humans; Child; Fluorodeoxyglucose F18; Dystonia; Kernicterus; Brain; Dystonic Disorders; Positron-Emission Tomography; Cerebral Palsy; Glucose; Molecular Chaperones; DNA-Binding Proteins; Apoptosis Regulatory Proteins
PubMed: 36445406
DOI: 10.1093/brain/awac439 -
Scientific Reports Apr 2023Mental rotation (mR) bases on imagination of actual movements. It remains unclear whether there is a specific pattern of mR impairment in focal dystonia. We aimed to...
Mental rotation (mR) bases on imagination of actual movements. It remains unclear whether there is a specific pattern of mR impairment in focal dystonia. We aimed to investigate mR in patients with cervical dystonia (CD) and blepharospasm (BS) and to assess potential confounders. 23 CD patients and 23 healthy controls (HC) as well as 21 BS and 19 hemifacial spasm (HS) patients were matched for sex, age, and education level. Handedness, finger dexterity, general reaction time, and cognitive status were assessed. Disease severity was evaluated by clinical scales. During mR, photographs of body parts (head, hand, or foot) and a non-corporal object (car) were displayed at different angles rotated within their plane. Subjects were asked to judge laterality of the presented image by keystroke. Both speed and correctness were evaluated. Compared to HC, CD and HS patients performed worse in mR of hands, whereas BS group showed comparable performance. There was a significant association of prolonged mR reaction time (RT) with reduced MoCA scores and with increased RT in an unspecific reaction speed task. After exclusion of cognitively impaired patients, increased RT in the mR of hands was confined to CD group, but not HS. While the question of whether specific patterns of mR impairment reliably define a dystonic endophenotype remains elusive, our findings point to mR as a useful tool, when used carefully with control measures and tasks, which may be capable of identifying specific deficits that distinguish between subtypes of dystonia.
Topics: Humans; Blepharospasm; Torticollis; Fingers; Motor Skills; Dystonic Disorders; Hemifacial Spasm
PubMed: 37055560
DOI: 10.1038/s41598-023-33262-4 -
CNS Drugs Apr 2024Drug-induced movement disorders (DIMDs) are associated with use of dopamine receptor blocking agents (DRBAs), including antipsychotics. The most common forms are... (Review)
Review
Drug-induced movement disorders (DIMDs) are associated with use of dopamine receptor blocking agents (DRBAs), including antipsychotics. The most common forms are drug-induced parkinsonism (DIP), dystonia, akathisia, and tardive dyskinesia (TD). Although rare, neuroleptic malignant syndrome (NMS) is a potentially life-threatening consequence of DRBA exposure. Recommendations for anticholinergic use in patients with DIMDs were developed on the basis of a roundtable discussion with healthcare professionals with extensive expertise in DIMD management, along with a comprehensive literature review. The roundtable agreed that "extrapyramidal symptoms" is a non-specific term that encompasses a range of abnormal movements. As such, it contributes to a misconception that all DIMDs can be treated in the same way, potentially leading to the misuse and overprescribing of anticholinergics. DIMDs are neurobiologically and clinically distinct, with different treatment paradigms and varying levels of evidence for anticholinergic use. Whereas evidence indicates anticholinergics can be effective for DIP and dystonia, they are not recommended for TD, akathisia, or NMS; nor are they supported for preventing DIMDs except in individuals at high risk for acute dystonia. Anticholinergics may induce serious peripheral adverse effects (e.g., urinary retention) and central effects (e.g., impaired cognition), all of which can be highly concerning especially in older adults. Appropriate use of anticholinergics therefore requires careful consideration of the evidence for efficacy (e.g., supportive for DIP but not TD) and the risks for serious adverse events. If used, anticholinergic medications should be prescribed at the lowest effective dose and for limited periods of time. When discontinued, they should be tapered gradually.
Topics: Humans; Aged; Dystonia; Cholinergic Antagonists; Psychomotor Agitation; Movement Disorders; Tardive Dyskinesia; Antipsychotic Agents; Neuroleptic Malignant Syndrome; Dystonic Disorders
PubMed: 38502289
DOI: 10.1007/s40263-024-01078-z