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Scientific Reports Nov 2020Upper crossed syndrome (UCS) refers to the altered muscle activations and movement patterns in scapulae along with some abnormal alignment in the upper quarter, which... (Clinical Trial)
Clinical Trial Randomized Controlled Trial
Upper crossed syndrome (UCS) refers to the altered muscle activations and movement patterns in scapulae along with some abnormal alignment in the upper quarter, which may contribute to the dysfunction of the cervicothoracic and glenohumeral joints. The present study aimed to investigate the effectiveness of a comprehensive corrective exercise program (CCEP) and subsequent detraining on alignment, muscle activation, and movement pattern in men with the UCS. This randomized controlled trial included 24 men. The intervention group conducted CCEP (8 weeks), followed by four weeks of detraining and the control group maintained normal daily activities. Electromyography of selected muscles, scapular dyskinesis test, head, shoulder, and thoracic spine angle were measured at baseline, post-test, and follow-up. There were significant differences for Group x time interaction and also for within-group from pre-test to post-test and follow-up in all outcomes. Also, significant differences were observed in three outcomes at post-test and follow-up between the CCEP and control group in favor of the CCEP. In Conclusion, the present study demonstrates that the CCEP for individuals with UCS is feasible and effective, improving muscle activation imbalance, movement patterns, and alignment. Importantly, these improvements were maintained after four weeks of detraining, suggesting lasting neuromuscular re-training adaptations.
Topics: Adult; Dyskinesias; Electromyography; Exercise; Exercise Therapy; Humans; Male; Movement; Muscles; Scapula; Shoulder; Shoulder Joint; Spine
PubMed: 33244045
DOI: 10.1038/s41598-020-77571-4 -
BMJ (Clinical Research Ed.) Apr 2022
Topics: Dystonia; Humans
PubMed: 35410890
DOI: 10.1136/bmj-2020-062659 -
Developmental Medicine and Child... Mar 2021Paediatric movement disorders (PMDs) comprise a large group of disorders (tics, myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed phenotypes....
Paediatric movement disorders (PMDs) comprise a large group of disorders (tics, myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed phenotypes. Determination of the underlying aetiology can be difficult given the broad differential diagnosis and the complexity of the genotype-phenotype relationships. This can make the diagnostic process time-consuming and difficult. In this overview, we present a diagnostic approach for PMDs, with emphasis on genetic causes. This approach can serve as a framework to lead the clinician through the diagnostic process in eight consecutive steps, including recognition of the different movement disorders, identification of a clinical syndrome, consideration of acquired causes, genetic testing including next-generation sequencing, post-sequencing phenotyping, and interpretation of test results. The aim of this approach is to increase the recognition and diagnostic yield in PMDs. WHAT THIS PAPER ADDS: An up-to-date description and diagnostic framework for testing of paediatric movement disorders is presented. The framework helps to determine which patients will benefit from next-generation sequencing.
Topics: Adolescent; Ataxia; Child; Chorea; Diagnosis, Differential; Dystonia; Humans; Movement Disorders; Pediatrics; Phenotype
PubMed: 33150968
DOI: 10.1111/dmcn.14721 -
Arquivos de Neuro-psiquiatria Apr 2020
Topics: Antiparkinson Agents; Dyskinesia, Drug-Induced; Dyskinesias; Humans; Levodopa; Parkinson Disease
PubMed: 32321051
DOI: 10.1590/0004-282X20200023 -
Annual Review of Physiology Feb 2024Novel variants encoding the BK K channel, are associated with a debilitating dyskinesia and epilepsy syndrome. Neurodevelopmental delay, cognitive disability, and brain... (Review)
Review
Novel variants encoding the BK K channel, are associated with a debilitating dyskinesia and epilepsy syndrome. Neurodevelopmental delay, cognitive disability, and brain and structural malformations are also diagnosed at lower incidence. More than half of affected individuals present with a rare negative episodic motor disorder, paroxysmal nonkinesigenic dyskinesia (PNKD3). The mechanistic relationship of PNKD3 to epilepsy and the broader spectrum of -associated symptomology is unknown. This review summarizes patient-associated variants within the BK channel structure, functional classifications, genotype-phenotype associations, disease models, and treatment. Patient and transgenic animal data suggest delineation of gain-of-function (GOF) and loss-of-function neurogenetic disease, validating two heterozygous alleles encoding GOF BK channels (D434G and N999S) as causing seizure and PNKD3. This discovery led to a variant-defined therapeutic approach for PNKD3, providing initial insight into the neurological basis. A comprehensive clinical definition of monogenic -linked disease and the neuronal mechanisms currently remain priorities for continued investigation.
Topics: Animals; Humans; Large-Conductance Calcium-Activated Potassium Channels; Channelopathies; Epilepsy; Chorea; Large-Conductance Calcium-Activated Potassium Channel alpha Subunits
PubMed: 37906945
DOI: 10.1146/annurev-physiol-030323-042845 -
Neurology India 2023
Topics: Humans; Dyskinesias; Chorea; Diabetes Mellitus
PubMed: 37148098
DOI: 10.4103/0028-3886.375388 -
Journal of Veterinary Internal Medicine Nov 2022Dystonia is a clinical sign and main feature of many movement disorders in humans as well as veterinary species. It is characterized by sustained or intermittent... (Review)
Review
Dystonia is a clinical sign and main feature of many movement disorders in humans as well as veterinary species. It is characterized by sustained or intermittent involuntary muscle contractions causing abnormal (often repetitive) movements, postures, or both. This review discusses the terminology and definition of dystonia, its phenomenology, and its pathophysiology, and provides considerations regarding the diagnosis and treatment of dystonia in dogs and cats. In addition, currently recognized or reported disorders in dogs and cats in which dystonia is a particular or main feature are discussed and comparisons are made between disorders featuring dystonia in humans and animals. We suggest that when describing the phenomenology of dogs and cats with dystonia, if possible the following should be included: activity being performed at onset (e.g., resting or running or exercise-induced), body distribution, duration, responsiveness (subjective), severity, temporal pattern (i.e., paroxysmal or persistent, severity at onset and at later stages), presence or absence of autonomic signs (e.g., salivation), presence or absence of preceding signs (e.g., restlessness), presence or absence of signs after dystonia subsides (e.g., sleepiness), coexistence of other movement disorders, any other neurological manifestations, and possible links to administered medications, intoxications or other associated factors. We also suggest that dystonia be classified based on its etiology as either structural genetic, suspected genetic, reactive, or unknown.
Topics: Humans; Cats; Dogs; Animals; Dystonia; Cat Diseases; Dog Diseases; Movement Disorders; Neurology
PubMed: 36086931
DOI: 10.1111/jvim.16532 -
BMJ Case Reports Aug 2021
Topics: Diabetes Complications; Diabetes Mellitus; Dyskinesias; Humans
PubMed: 34376423
DOI: 10.1136/bcr-2021-244248 -
Arquivos de Neuro-psiquiatria Nov 2023Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration... (Review)
Review
BACKGROUND
Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. The complicated forms evolve with other various neurological signs and symptoms, including movement disorders and ataxia.
OBJECTIVE
To summarize the clinical descriptions of SPG that manifest with movement disorders or ataxias to assist the clinician in the task of diagnosing these diseases.
METHODS
We conducted a narrative review of the literature, including case reports, case series, review articles and observational studies published in English until December 2022.
RESULTS
Juvenile or early-onset parkinsonism with variable levodopa-responsiveness have been reported, mainly in SPG7 and SPG11. Dystonia can be observed in patients with SPG7, SPG11, SPG22, SPG26, SPG35, SPG48, SPG49, SPG58, SPG64 and SPG76. Tremor is not a frequent finding in patients with SPG, but it is described in different types of SPG, including SPG7, SPG9, SPG11, SPG15, and SPG76. Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, and neuropathy). SPG4, SPG6, SPG10, SPG27, SPG30 and SPG31 may rarely present with ataxia with cerebellar atrophy. And autosomal recessive SPG such as SPG7 and SPG11 can also present with ataxia.
CONCLUSION
Patients with SPG may present with different forms of movement disorders such as parkinsonism, dystonia, tremor, myoclonus and ataxia. The specific movement disorder in the clinical manifestation of a patient with SPG may be a clinical clue for the diagnosis.
Topics: Humans; Spastic Paraplegia, Hereditary; Mutation; Tremor; Dystonia; Movement Disorders; Ataxia; Parkinsonian Disorders; Proteins
PubMed: 38035585
DOI: 10.1055/s-0043-1777005 -
Ugeskrift For Laeger Sep 2023In this case report, we present a case of a 62-year-old woman with unsteadiness due to CANVAS. In addition to sensory, cerebellar, and vestibular affection she had...
In this case report, we present a case of a 62-year-old woman with unsteadiness due to CANVAS. In addition to sensory, cerebellar, and vestibular affection she had unusual features in the form of chorea and facial dystonia. Moreover, she had cervical dystonia which, to the best of our knowledge, has not previously been reported in CANVAS.
Topics: Female; Humans; Middle Aged; Chorea; Ataxia; Torticollis
PubMed: 37767867
DOI: No ID Found