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Tremor and Other Hyperkinetic Movements... 2021Palmaris brevis syndrome, a pseudodystonia characterized by abnormal involuntary contractions of the palmaris brevis muscle which resides in the hypothenar eminence, is... (Review)
Review
BACKGROUND
Palmaris brevis syndrome, a pseudodystonia characterized by abnormal involuntary contractions of the palmaris brevis muscle which resides in the hypothenar eminence, is believed to be due to compressive irritation of motor fibers which arise from the superficial branch of the ulnar nerve.
CASE REPORT
Herein, we review the origins, differential diagnosis and pathophysiology of the palmaris brevis syndrome, and effective treatment of a patient with workplace modifications and injections of botulinum toxin type A.
DISCUSSION
Prompt diagnosis of the palmaris brevis syndrome facilitates effective treatment and resolution.
HIGHLIGHTS
Like the task-specific hand dystonias seen in writers and musicians, palmaris brevis syndrome, a pseudodystonia, may be caused and aggravated by extreme repetitive use. Here, we report a case of palmaris brevis syndrome apparently triggered by high-volume use of a pipette and computer mouse and review relevant clinical facets from previously published cases. Treatment must include workplace modifications and may include injections of botulinum toxin.
Topics: Botulinum Toxins, Type A; Dystonic Disorders; Hand; Humans; Muscle, Skeletal; Ulnar Nerve
PubMed: 34754604
DOI: 10.5334/tohm.659 -
Neurobiology of Disease Jan 2021X-linked Dystonia Parkinsonism (XDP) is a recessive, genetically inherited neurodegenerative disorder endemic to Panay Island in the Philippines. Clinical symptoms... (Review)
Review
X-linked Dystonia Parkinsonism (XDP) is a recessive, genetically inherited neurodegenerative disorder endemic to Panay Island in the Philippines. Clinical symptoms include the initial appearance of dystonia, followed by parkinsonian traits after 10-15 years. The basal ganglia, particularly the striatum, is an area of focus in XDP neuropathology research, as the striatum shows marked atrophy that correlates with disease progression. Thus, XDP shares features of Parkinson's disease symptomatology, in addition to the genetic predisposition and presence of striatal atrophy resembling Huntington's disease. However, further research is required to reveal the detailed pathology and indicators of disease in the XDP brain. First, there are limited neuropathological studies that have investigated neuronal changes and neuroinflammation in the XDP brain. However, multiple neuroimaging studies on XDP patients provide clues to other affected brain regions. Furthermore, molecular pathological studies have elucidated that the main genetic cause of XDP is in the TAF-1 gene, but how this mutation relates to XDP neuropathology still remains to be fully investigated. Hence, we aim to provide an extensive overview of the current literature describing neuropathological changes within the XDP brain, and discuss future research avenues, which will provide a better understanding of XDP neuropathogenesis.
Topics: Basal Ganglia; Brain; Diffusion Magnetic Resonance Imaging; Dystonic Disorders; Genetic Diseases, X-Linked; Humans; Magnetic Resonance Imaging; Neostriatum
PubMed: 33227492
DOI: 10.1016/j.nbd.2020.105186 -
Neurobiology of Disease Jun 2023Sleep disturbances are highly prevalent in movement disorders, potentially due to the malfunctioning of basal ganglia structures. Pallidal deep brain stimulation (DBS)...
BACKGROUND
Sleep disturbances are highly prevalent in movement disorders, potentially due to the malfunctioning of basal ganglia structures. Pallidal deep brain stimulation (DBS) has been widely used for multiple movement disorders and been reported to improve sleep. We aimed to investigate the oscillatory pattern of pallidum during sleep and explore whether pallidal activities can be utilized to differentiate sleep stages, which could pave the way for sleep-aware adaptive DBS.
METHODS
We directly recorded over 500 h of pallidal local field potentials during sleep from 39 subjects with movement disorders (20 dystonia, 8 Huntington's disease, and 11 Parkinson's disease). Pallidal spectrum and cortical-pallidal coherence were computed and compared across sleep stages. Machine learning approaches were utilized to build sleep decoders for different diseases to classify sleep stages through pallidal oscillatory features. Decoding accuracy was further associated with the spatial localization of the pallidum.
RESULTS
Pallidal power spectra and cortical-pallidal coherence were significantly modulated by sleep-stage transitions in three movement disorders. Differences in sleep-related activities between diseases were identified in non-rapid eye movement (NREM) and REM sleep. Machine learning models using pallidal oscillatory features can decode sleep-wake states with over 90% accuracy. Decoding accuracies were higher in recording sites within the internus-pallidum than the external-pallidum, and can be precited using structural (P < 0.0001) and functional (P < 0.0001) whole-brain neuroimaging connectomics.
CONCLUSION
Our findings revealed strong sleep-stage dependent distinctions in pallidal oscillations in multiple movement disorders. Pallidal oscillatory features were sufficient for sleep stage decoding. These data may facilitate the development of adaptive DBS systems targeting sleep problems that have broad translational prospects.
Topics: Humans; Globus Pallidus; Dystonia; Parkinson Disease; Deep Brain Stimulation; Dystonic Disorders; Sleep
PubMed: 37146835
DOI: 10.1016/j.nbd.2023.106143 -
Scientific Reports Jan 2021Individuals with Rett syndrome (RTT) commonly demonstrate Parkinsonian features and dystonia at teen age; however, the pathological reason remains unclear. Abnormal iron...
Individuals with Rett syndrome (RTT) commonly demonstrate Parkinsonian features and dystonia at teen age; however, the pathological reason remains unclear. Abnormal iron accumulation in deep gray matter were reported in some Parkinsonian-related disorders. In this study, we investigated the iron accumulation in deep gray matter of RTT and its correlation with dystonia severity. We recruited 18 RTT-diagnosed participants with MECP2 mutations, from age 4 to 28, and 28 age-gender matched controls and investigated the iron accumulation by susceptibility weighted image (SWI) in substantia nigra (SN), globus pallidus (GP), putamen, caudate nucleus, and thalamus. Pearson's correlation was applied for the relation between iron accumulation and dystonia severity. In RTT, the severity of dystonia scales showed significant increase in subjects older than 10 years, and the contrast ratios of SWI also showed significant differences in putamen, caudate nucleus and the average values of SN, putamen, and GP between RTT and controls. The age demonstrated moderate to high negative correlations with contrast ratios. The dystonia scales were correlated with the average contrast ratio of SN, putamen and GP, indicating iron accumulation in dopaminergic system and related grey matter. As the first SWI study for RTT individuals, we found increased iron deposition in dopaminergic system and related grey matter, which may partly explain the gradually increased dystonia.
Topics: Adolescent; Adult; Brain Mapping; Case-Control Studies; Child; Child, Preschool; Dystonic Disorders; Female; Gray Matter; Humans; Iron; Iron Overload; Magnetic Resonance Imaging; Methyl-CpG-Binding Protein 2; Mutation; Rett Syndrome; Severity of Illness Index; Young Adult
PubMed: 33436916
DOI: 10.1038/s41598-020-80723-1 -
JNMA; Journal of the Nepal Medical... Nov 2021Sandifer syndrome is an extra oesophageal manifestation of gastrointestinal reflux disease that usually presents with torticollis and dystonia (often mimicking...
Sandifer syndrome is an extra oesophageal manifestation of gastrointestinal reflux disease that usually presents with torticollis and dystonia (often mimicking epilepsy). Here, we describe a case of a four and a half years old child with convulsion, neck contortion, and irritability. Gastrointestinal reflux disease was suspected on the earlier visit of the patient based on the presenting symptom of vomiting and cough. Electroencephalogram revealed normal findings. A barium meal radiograph was performed which was insignificant for gastrointestinal reflux disease and hiatal hernia. Complete blood count showed results suggestive of iron deficiency anaemia, while the rest of the biochemical parameters and the infection screening were normal. The case was confirmed by a medication trial for gastrointestinal reflux disease. This syndrome is often misdiagnosed as infantile seizure and musculoskeletal disorder. So, physicians need to have a sound knowledge of Sandifer Syndrome while assessing a child presenting with convulsion and torticollis.
Topics: Child; Child, Preschool; Dystonic Disorders; Gastroesophageal Reflux; Humans; Syndrome; Torticollis
PubMed: 35199701
DOI: 10.31729/jnma.6472 -
Genes Sep 2023Biallelic variants in the Golgi SNAP receptor complex member 2 gene () have been reported in progressive myoclonus epilepsy with neurodegeneration. Typical clinical...
Biallelic variants in the Golgi SNAP receptor complex member 2 gene () have been reported in progressive myoclonus epilepsy with neurodegeneration. Typical clinical features include ataxia and areflexia during early childhood, followed by seizures, scoliosis, dysarthria, and myoclonus. Here, we report two novel patients from unrelated families with a -related disorder and novel genetic and clinical findings. The first patient, a male compound heterozygous for the splice site variant c.336+1G>A and the novel c.364G>A,p.Glu122Lys missense variant showed global developmental delay and seizures at the age of 2 years, followed by myoclonus at the age of 8 years with partial response to clonazepam. The second patient, a female homozygous for the founder variant p.Gly144Trp, showed only mild fine motor developmental delay and generalized tonic-clonic seizures triggered by infections during adolescence, with seizure remission on levetiracetam. The associated movement disorder progressed atypically slowly during adolescence compared to its usual speed, from initial intention tremor and myoclonus to ataxia, hyporeflexia, dysmetria, and dystonia. These findings expand the genotype-phenotype spectrum of -related disorders and suggest that should be included in the consideration of monogenetic causes of dystonia, global developmental delay, and seizures.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Male; Ataxia; Dystonia; Dystonic Disorders; Mutation; Myoclonic Epilepsies, Progressive; Myoclonus; Qb-SNARE Proteins; Seizures
PubMed: 37895210
DOI: 10.3390/genes14101860 -
Tremor and Other Hyperkinetic Movements... Jul 2020Myoclonus-dystonia due to mutations (OMIM: 159900) most commonly presents during childhood with mainly upper body myoclonus, and mild dystonia affecting the neck and...
BACKGROUND
Myoclonus-dystonia due to mutations (OMIM: 159900) most commonly presents during childhood with mainly upper body myoclonus, and mild dystonia affecting the neck and arms.
CASE REPORTS
Herein, we report patients misdiagnosed during childhood with Tourette syndrome and dyskinetic cerebral palsy, and, during adulthood, found to harbor frameshift mutations.
DISCUSSION
Myoclonus-dystonia may be underdiagnosed due to phenotypic misclassification during childhood. mutations should be included in the differential diagnosis of childhood movement disorders that ostensibly manifest with tics, myoclonus, or abnormal posturing secondary to dystonia and/or spasticity.
HIGHLIGHTS
Due to pleiotropy, variable penetrance, broad differential, and hereditary effects of imprinting, the diagnosis of a disorder of childhood onset, myoclonus-dystonia due to mutations, may be delayed until adulthood, often compromising appropriate clinical management and genetic counseling.
Topics: Adult; Cerebral Palsy; Delayed Diagnosis; Dystonic Disorders; Female; Frameshift Mutation; Humans; Male; Middle Aged; Pedigree; Sarcoglycans; Tourette Syndrome
PubMed: 32775037
DOI: 10.5334/tohm.334 -
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