Hipercinesia refere-se a um aumento na atividade muscular que pode resultar em movimentos excessivos, sejam anormais, normais ou combinados. A hipercinesia é um estado de inquietação excessiva que é apresentado em uma grande variedade de distúrbios que afetam a capacidade de controlar o movimento motor, como a doença de Huntington. É o oposto da hipocinesia, que se refere à diminuição do movimento corporal, como comumente manifestado na doença de Parkinson.
Introdução
O que você precisa saber de cara
Distonia cervical sensível à dopamina é uma forma de distonia cervical que responde bem à levodopa. Caracteriza-se por contrações musculares involuntárias no pescoço, levando a posturas anormais da cabeça, com melhora significativa após a administração de dopamina.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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Optimizing treatment for cervical dystonia: botulinum toxin alone or combined with physical therapy?
Idiopathic cervical dystonia (ICD) is a chronic movement disorder characterized by involuntary neck muscles contractions, leading to pain, disability, and poor quality of life. While botulinum toxin (BTX) type A is the first-line treatment, its efficacy on non-motor symptoms is limited. Physical therapy (PT) may act synergistically and improve functional outcomes. To evaluate whether BTX with tailored PT yields superior clinical outcomes compared to BTX alone in ICD patients, focusing on motor severity, disability, pain,mood, and quality of life. This is a monocentric crossover trial on adults with ICD receiving stable BTX. They were randomized to two treatment sequences (BTX → BTX+PT or BTX+PT → BTX), with a 4-week washout. PT consisted of a six-week individualized program including daily home exercises and weekly supervised sessions. Outcomes were assessed using TWSTRS, BDI-II, SAS, and CDIP-58. Among 20 enrolled patients, 18 completed the trial. Both treatments improved TWSTRS total scores (p = 0.0001), with greater improvement in the BTX+PT group (p = 0.0024). PT addition significantly reduced disability (p = 0.0024), pain (p = 0.0024), and depression (p = 0.0089). Anxiety improved, without significant between-group differences. CDIP-58 scores showed greater quality-of-life gains with BTX+PT (p < 0.0001). BTX with PT shows greater effectiveness than BTX alone in managing ICD, improving motor and non-motor symptoms. These findings support the integration of individualized PT into standard care to optimize clinical benefits.
Reorganization of Directed Corticomuscular Network via Median Nerve Stimulation in Cervical Dystonia.
Cervical dystonia (CD) originates in dysfunctional sensorimotor integration, creating an urgent need for neuromodulatory interventions that recalibrate pathological corticomuscular circuits. The aim of this study was to investigate whether median nerve electrical stimulation (MNES) can serve as a novel, noninvasive therapy that specifically targets the abnormal corticomuscular network. We investigated high-density electroencephalography combined with synchronized electromyography (EMG) recordings from 17 patients and 17 healthy control subjects during MNES and sensory trick (ST) tasks. Source-localized cortical activity and muscle signals were integrated into a directional corticomuscular network, with connectivity quantified by phase transfer entropy. MNES selectively suppressed pathological 4 to 8 Hz intermuscular coupling in patients, reorganized aberrant muscle synergy, and drove frequency-specific network reorganization: reduced beta-band outflow, decreased clustering coefficients, and prolonged the shortest path lengths across multiple frequency bands. Crucially, MNES enhanced hemispheric asymmetry in primary sensory cortex, supplementary motor area, and cerebellum. Operating predominantly in theta/alpha bands, MNES contrasted sharply with ST's gamma-band modulation. These findings demonstrate that MNES restores corticomuscular network dynamics through multilever reconfiguration, attenuating pathological synchrony while facilitating adaptive circuit plasticity, thereby validating directed network analysis as a framework for circuit-targeted neuromodulation in movement disorders. © 2026 International Parkinson and Movement Disorder Society.
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.
Myoclonus-dystonia syndrome (MDS) is an autosomal dominant movement disorder most caused by pathogenic variants in SGCE, an imprinted gene subject to maternal silencing. While numerous pathogenic variants have been reported, the extent and determinants of intrafamilial variability remain incompletely understood. We investigated a large French family in which ten individuals across three generations presented with myoclonic jerks, dystonia, or combined phenotypes. Trio whole-exome sequencing performed in the proband, her affected brother, and her affected father identified a heterozygous SGCE variant, NM_003919.3:c.406T > G, predicting a p.Cys136Gly substitution in a highly conserved cysteine-rich extracellular domain of ε-sarcoglycan. The variant segregated with disease in all clinically affected individuals for whom DNA was available and was absent from population databases. The phenotypic spectrum ranged from mild, stress-induced myoclonus in females to early-onset myoclonus with cervical dystonia and alcohol responsiveness in males, consistent with imprinting effects and sex-dependent modifiers. Variant interpretation using ACMG/AMP criteria (PM1, PM2, PM5, PP1-strong, PP2, PP3) supports a pathogenic classification. This previously unreported SGCE missense variant expands the mutational spectrum of MDS and further illustrates the substantial intrafamilial variability of SGCE-related disease.
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.
Myoclonus-dystonia syndrome (MDS) is an autosomal dominant movement disorder most caused by pathogenic variants in SGCE, an imprinted gene subject to maternal silencing. While numerous pathogenic variants have been reported, the extent and determinants of intrafamilial variability remain incompletely understood. We investigated a large French family in which ten individuals across three generations presented with myoclonic jerks, dystonia, or combined phenotypes. Trio whole-exome sequencing performed in the proband, her affected brother, and her affected father identified a heterozygous SGCE variant, NM_003919.3:c.406T > G, predicting a p.Cys136Gly substitution in a highly conserved cysteine-rich extracellular domain of ε-sarcoglycan. The variant segregated with disease in all clinically affected individuals for whom DNA was available and was absent from population databases. The phenotypic spectrum ranged from mild, stress-induced myoclonus in females to early-onset myoclonus with cervical dystonia and alcohol responsiveness in males, consistent with imprinting effects and sex-dependent modifiers. Variant interpretation using ACMG/AMP criteria (PM1, PM2, PM5, PP1-strong, PP2, PP3) supports a pathogenic classification. This previously unreported SGCE missense variant expands the mutational spectrum of MDS and further illustrates the substantial intrafamilial variability of SGCE-related disease.
Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.
Type-III (adult/chronic) GM1 gangliosidosis is an uncommon, late-onset lysosomal disorder that frequently presents as a complex movement disorder. In this retrospective case series, clinical details, neuroimaging, electrophysiology, and genetics were extracted from standardized records and videos. Eight patients were identified with median age at symptom onset of 6 years (range 3-18), and age at presentation of 23 years (12-27). All exhibited generalized dystonia with early, conspicuous oro-mandibular-cranio-cervical involvement; dysarthria was universal, parkinsonism occurred in two, and corticospinal signs in six. Ocular motor abnormalities were frequent; kyphoscoliosis was common. Where performed, nerve conduction studies, electroencephalography, evoked potentials, and abdominal ultrasound were unremarkable. MRI consistently demonstrated bilateral posterior putaminal T2/FLAIR change and the pathognomonic pallidal SWI "wishbone" pattern. All patients harboured biallelic GLB1 variants: seven were compound heterozygous and one was homozygous. The recurrent variant c.1325G>A;p.Arg442Gln was present in seven patients. One novel variant (c.1022G>T;p.Gly341Val) was identified. Symptomatic therapies yielded variable, generally modest benefits over available follow-up. A prominent oromandibular-cranio-cervical dystonia, posterior putaminal atrophy, and hyperintensity, with a SWI "wishbone" sign, strongly point to Type-III GM1 gangliosidosis. Recognizing this clinico-radiologic-genetic constellation can streamline targeted testing and counselling.
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Altered transversus abdominis and internal oblique muscle activation during cervical motor control tasks in individuals with chronic neck pain: A surface EMG-based analysis.
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Combined Cervical Cancer Screening and the Incidence of Adenocarcinoma: An Analysis of Data From the German Cancer Registries.
Partial upper sternotomy for resection of a large substernal goiter in a high-risk patient.
📚 EuropePMCmostrando 198
Reorganization of Directed Corticomuscular Network via Median Nerve Stimulation in Cervical Dystonia.
Movement disorders : official journal of the Movement Disorder SocietyIntrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.
European journal of medical geneticsClinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.
Tremor and other hyperkinetic movements (New York, N.Y.)Nonmotor symptoms of craniocervical dystonia: a multicentre international study-using the Dystonia nonmotor symptoms questionnaire.
Journal of neural transmission (Vienna, Austria : 1996)Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.
Frontiers in endocrinologyOptimizing treatment for cervical dystonia: botulinum toxin alone or combined with physical therapy?
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyBalance, Gait Kinematics, and Fear of Falling After a Four-Month Targeted Training Program in a Patient with Cervical Dystonia: A Case Report.
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Frontiers in surgeryA study protocol for a randomized controlled trial to assess the effects of Baduanjin exercise on balance impairment in patients with cervical dystonia.
Frontiers in neurologyClinical efficacy of soft tissue micro-adjustment combined with traction in pediatric atlantoaxial subluxation: a randomised controlled study protocol using musculoskeletal ultrasound technology.
Frontiers in pediatricsTwo-year real-world retrospective safety evaluation with onabotulinumtoxinA across multiple therapeutic indications: Findings from the SYNCHRONIZE study.
Toxicon : official journal of the International Society on ToxinologyDoes the ability to stop ongoing movement differentiate cervical dystonia from functional cervical dystonia?
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World neurosurgeryComprehensive comparative study of Chiari-like malformation in veterinary and human medicine.
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Radiology case reportsCervicothoracic ventral-dorsal rhizotomy for bilateral upper-extremity hypertonia in cerebral palsy: illustrative case.
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International journal of surgery case reportsEffect of sling exercise combined with Schroth therapy on adolescents with mild idiopathic scoliosis: A twelve-week randomized controlled trial.
Journal of back and musculoskeletal rehabilitation[Analysis of a child with Verheij syndrome due to variant of PUF60 gene].
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BMC musculoskeletal disordersAnatomical categorization of isolated non-focal dystonia: novel and existing patterns using a data-driven approach.
Dystonia (Lausanne, Switzerland)Content overlap of 91 dystonia symptoms among the seven most commonly used cervical dystonia scales.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology"Pseudo"-Secondary Treatment Failure Explained via Disease Progression and Effective Botulinum Toxin Therapy: A Pilot Simulation Study.
ToxinsExploring the Interplay between the Clinical and Presumed Effect of Botulinum Injections for Cervical Dystonia: A Pilot Study.
ToxinsThe Challenge of Choosing the Right Stimulation Target for Dystonic Tremor-A Series of Instructive Cases.
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Asian journal of surgeryKinesioTaping: impact on non-motor symptoms in cervical dystonia patients treated with botulinum toxin injection.
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Journal of the neurological sciencesEffect of massage therapy on infants with congenital muscular torticollis: A retrospective comparative study.
Frontiers in pediatrics[Clinical Features of Common Types of Dystonia and Practical Approach for Occupational Dystonia].
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NeurologyRole of steroids in conservative treatment of parapharyngeal and retropharyngeal abscess in children.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery[WU Lian-zhong's experience in treating spasmodic torticollis by Kaiqiao Shunjin method].
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Romanian journal of ophthalmologyVim-Thalamic Deep Brain Stimulation for Cervical Dystonia and Upper-Limb Tremor: Quantification by Markerless-3D Kinematics and Accelerometry.
Tremor and other hyperkinetic movements (New York, N.Y.)Neuropsychological Functioning in Primary Dystonia: Updated and Expanded Multidomain Meta-Analysis.
Movement disorders : official journal of the Movement Disorder SocietyState of Rehabilitation Research in the Head and Neck Cancer Population: Functional Impact vs. Impairment-Focused Outcomes.
Current oncology reportsMovement Disorders and Musculoskeletal System: A Reciprocal Relationship.
Movement disorders clinical practiceUnilateral Absence of Sternocleidomastoid and Ipsilateral Trapezius Presenting as Congenital Torticollis: A Case of a Rare Entity.
CureusFacial Asymmetry in Unilateral Congenital Superior Oblique Muscle Palsy.
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Obstetrics and gynecology internationalHow Successful is Combined Superior and Inferior Oblique Muscle Surgery in Young Children with Superior Oblique Underaction Presenting in Infancy with a Severe Head Tilt?
The British and Irish orthoptic journalImprovement of head and neck range of motion induced by chronic pallidal deep brain stimulation for cervical dystonia.
Journal of neural transmission (Vienna, Austria : 1996)Multipoint fixation with vascularised fibular bone graft and myotomy for atlanto-axial instability in cervical dystonia: a case report.
British journal of neurosurgeryBotulinum toxin treatment of dystonic anterocollis: What to inject.
Parkinsonism & related disorders[Summary on WEI Li-fu's experience in clinical treatment of spasmodic torticollis].
Zhongguo zhen jiu = Chinese acupuncture & moxibustionExpanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions.
Neurology. GeneticsMagnetic Resonance Imaging as the Primary Imaging Modality in Children Presenting with Inflammatory Nontraumatic Atlantoaxial Rotatory Subluxation.
Children (Basel, Switzerland)Embryological considerations and evaluation of congenital anomalies of craniovertebral junction: A single-center experience.
Tzu chi medical journalLong-term effects of pallidal and thalamic deep brain stimulation in myoclonus dystonia.
European journal of neurologyThe expanding clinical and genetic spectrum of ANO3 dystonia.
Neuroscience lettersA metabolomic study of cervical dystonia.
Parkinsonism & related disordersDevelopment and Validation of a Disease-Specific Oromandibular Dystonia Rating Scale (OMDRS).
Frontiers in neurologyA Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.
Movement disorders : official journal of the Movement Disorder SocietyAdvanced Simultaneous Isolation, Culture, and Identification of Myoblasts and Fibroblasts From Sternocleidomastoid Muscle of Congenital Muscular Torticollis.
The Journal of craniofacial surgeryBotulinum toxin therapy of dystonia.
Journal of neural transmission (Vienna, Austria : 1996)Surgical Strategies for Cervical Deformities Associated With Neuromuscular Disorders.
NeurospineNeuronal Activity of Pallidal Versus Cerebellar Receiving Thalamus in Patients with Cervical Dystonia.
Cerebellum (London, England)Management of Anterocapitis and Anterocollis: A Novel Ultrasound Guided Approach Combined with Electromyography for Botulinum Toxin Injection of Longus Colli and Longus Capitis.
ToxinsSternocleidomastoid muscle asymmetry in unilateral congenital superior oblique palsy.
Eye (London, England)Adjustable graded augmentation of superior rectus transposition for treatment of abducens nerve palsy and Duane syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusA clinical improvement of a idiopathic cervical dystonia in a patient treated with transdermal Rotigotine: a case-report.
Acta bio-medica : Atenei ParmensisDemographics and coexisting tremor, cervical dystonia and vocal fold disorders in a group of patients with spasmodic dysphonia.
Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-faccialeUse of AbobotulinumtoxinA in Adults with Cervical Dystonia: A Systematic Literature Review.
ToxinsGrisel's syndrome post otolaryngology procedures: A systematic review.
International journal of pediatric otorhinolaryngologyBilateral pediatric pial arteriovenous fistulas accompanying a giant arachnoid cyst with torticollis: A case report.
MedicineA Rare Case of Spontaneous Intrauterine Skull Fracture.
Acta medica portuguesaThe efficacy of single-photon emission computed tomography in identifying dystonic muscles in cervical dystonia.
Nuclear medicine communications[Cervical myelopathy in the hyperkinetic form of cerebral palsy: combination of botulinum therapy with surgical treatment].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaCervical dystonia - improving the effectiveness of botulinum toxin therapy.
Neurologia i neurochirurgia polskaNon-invasive brain stimulation and kinesiotherapy for treatment of focal dystonia: Instrumental analysis of three cases.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia[Highly dosed Anderson and Kestenbaum operations for anomalous head posture due to nystagmus].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen GesellschaftPallidal Activity in Cervical Dystonia with and Without Head Tremor.
Cerebellum (London, England)Smell and taste in cervical dystonia.
Journal of neural transmission (Vienna, Austria : 1996)Diagnosis and management of Sandifer syndrome in children with intractable neurological symptoms.
European journal of pediatricsTreatment of severe refractory dystonic tremor associated with cervical dystonia by bilateral deep brain stimulation: A case series report.
Clinical neurology and neurosurgerySlowed Movement Stopping in Parkinson's Disease and Focal Dystonia is Improved by Standard Treatment.
Scientific reportsThe Effect of Computed Tomography-Guided Botulinum Toxin Injection on Cervical Dystonia, Confirmed by a 9-Month Follow-Up Using Positron Emission Tomography/Computed Tomography.
American journal of physical medicine & rehabilitationFrequency of different subtypes of cervical dystonia: a prospective multicenter study according to Col-Cap concept.
Journal of neural transmission (Vienna, Austria : 1996)One-Stage Anteroposterior Extensive Atlantoaxial Osteotomy Correction With 16 Months Follow-up: Technical Case Report.
Operative neurosurgery (Hagerstown, Md.)Impact of Candida auris Infection in a Neutropenic Murine Model.
Antimicrobial agents and chemotherapyLevodopa-responsive retrocollis on the background of choreic dyskinesia.
The International journal of neuroscienceHemodynamic responses are abnormal in isolated cervical dystonia.
Journal of neuroscience researchBody Weight at Birth: The Only Risk Factor Associated with Contralateral Clavicular Fracture in Patients with Congenital Muscular Torticollis.
Scientific reportsHigh Prevalence of Dystonia in the Faroe Islands: A Population-Based Study.
NeuroepidemiologyIncobotulinumtoxinA and Deep Brain Stimulation.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesTypes of materials for frontalis sling surgery for congenital ptosis.
The Cochrane database of systematic reviewsNetwork-level connectivity is a critical feature distinguishing dystonic tremor and essential tremor.
Brain : a journal of neurologyA randomized study of botulinum toxin versus botulinum toxin plus physical therapy for treatment of cervical dystonia.
Parkinsonism & related disordersMeasurement properties of instruments for assessment of cervical spine function in infants with torticollis: a systematic review.
European journal of pediatricsCervical Spine Osteoblastoma with an Aneurysmal Bone Cyst in a 2-Year-Old Child: A Case Report.
Pediatric neurosurgery[Professor FANG Jianqiao's clinical experience in the treatment of primary cervical dystonia].
Zhongguo zhen jiu = Chinese acupuncture & moxibustionFrequency-Specific Microcurrent for Treatment of Longstanding Congenital Muscular Torticollis.
Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy AssociationRisk Factor Genes in Patients with Dystonia: A Comprehensive Review.
Tremor and other hyperkinetic movements (New York, N.Y.)Use of Combined Botulinum Toxin and Physical Therapy for Treatment Resistant Congenital Muscular Torticollis.
Journal of pediatric orthopedicsDeep Brain Stimulation Versus Peripheral Denervation for Cervical Dystonia: A Systematic Review and Meta-Analysis.
World neurosurgeryPredictors of alcohol responsiveness in dystonia.
NeurologyClinicopathological evaluation of Newcastle disease virus vaccination using gums from Cedrela odorata and Khaya senegalensis as delivery agents in challenged chickens.
International journal of veterinary science and medicine[Non-drug therapy of vertigo].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaCombined Fractures Involving the Odontoid and Unilateral Superior Articular Processes of the Axis: A Report of Three Cases and Literature Review.
Journal of orthopaedic case reportsPosterior fossa arachnoid cyst causing torticollis and gastro-oesophageal reflux in an infant.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySystematic Review of Rehabilitation in Focal Dystonias: Classification and Recommendations.
Movement disorders clinical practiceBoth Deep Brain Stimulation and Thalamotomy in a 13-Year-Old Patient with Primary Dystonia.
World neurosurgeryReappraising the role of motor surround inhibition in dystonia.
Journal of the neurological sciencesA case of epidural glioblastoma metastasis presenting with a cervical myelopathy, torticollis, and L'hermitte's phenomenon.
Brain tumor pathologyEndoscopic release of congenital muscular torticollis with radiofrequency in teenagers.
Journal of orthopaedic surgery and researchAccessory Clavicular Sternocleidomastoid Causing Torticollis in an Adult.
Progress in rehabilitation medicineNew Rhizotomy Procedure for Primary Spasmodic Torticollis.
The Journal of craniofacial surgeryTraumatic C1-2 rotatory subluxation with dens and bilateral articular facet fractures of C2: A case report.
MedicineCervical hemivertebra resection and torticollis correction: report on two cases and literature review.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyTime to revisit tummy time: A commentary on plagiocephaly and development.
Paediatrics & child healthPallidal deep brain stimulation modulates cortical excitability and plasticity.
Annals of neurologyMuscle Selection for Focal Limb Dystonia.
ToxinsAcute Dystonic Reaction Following General Anesthetic Agent Use.
Tremor and other hyperkinetic movements (New York, N.Y.)Selective Cervical Denervation for Cervical Dystonia: Modification of the Bertrand Procedure.
Operative neurosurgery (Hagerstown, Md.)Unresolved Congenital Torticollis and Its Consequences: A Report of 2 Cases.
Journal of chiropractic medicineTremor in Dystonia: A Cross-sectional Study from India.
Movement disorders clinical practiceAntibody responses to botulinum neurotoxin type A of toxin-treated spastic equinus children with cerebral palsy: A randomized clinical trial comparing two injection schedules.
Journal of neuroimmunologyRelationship of Cognitive Function to Motor Symptoms and Mood Disorders in Patients With Isolated Dystonia.
Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive NeurologyPhysiology of midbrain head movement neurons in cervical dystonia.
Movement disorders : official journal of the Movement Disorder SocietyHow Do I Treat Cervical Dystonia With Botulinum Toxin by Using Ultrasound?
Movement disorders clinical practiceFactors influencing outcomes of the treatment of positional plagiocephaly in infants: a 7-year experience.
Journal of neurosurgery. PediatricsBilateral globus pallidus internus deep brain stimulation for dyskinetic cerebral palsy supports success of cochlear implantation in a 5-year old ex-24 week preterm twin with absent cerebellar hemispheres.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyCerebellar Intermittent Theta-Burst Stimulation and Motor Control Training in Individuals with Cervical Dystonia.
Brain sciencesA randomized, single-blinded pilot study evaluating the effects of kinesiology taping and the tape application techniques in addition to therapeutic exercises in the treatment of congenital muscular torticollis.
Clinical rehabilitationAssessing and treating pain in movement disorders, amyotrophic lateral sclerosis, severe acquired brain injury, disorders of consciousness, dementia, oncology and neuroinfectivology. Evidence and recommendations from the Italian Consensus Conference on Pain in Neurorehabilitation.
European journal of physical and rehabilitation medicineMore Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes.
Tremor and other hyperkinetic movements (New York, N.Y.)Sporadic and familial myoclonic dystonia: Report of three cases and review of literature.
Annals of Indian Academy of NeurologyCustom neck orthosis in combination with onabotulinumtoxinA for the treatment of refractory congenital muscular torticollis: A case report.
Journal of pediatric rehabilitation medicineSurgical management of congenital torticollis in children older than 7 years with an average 10-year follow-up.
Journal of pediatric orthopedics. Part BThe anatomical basis of upper limb dystonia: lesson from secondary cases.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyParticipation of the thalamic CM-Pf complex in movement performance in patients with dystonia.
Movement disorders : official journal of the Movement Disorder SocietyDevelopment of the Comprehensive Cervical Dystonia Rating Scale: Methodology.
Movement disorders clinical practiceBehavioural interventions for people living with adult-onset primary dystonia: a systematic review.
BMC neurologyClinimetric testing of the comprehensive cervical dystonia rating scale.
Movement disorders : official journal of the Movement Disorder SocietyCervical Scoliosis: Clinical and Radiographic Outcomes.
Global spine journal[Strabismus Sursoabductorius (put into the Context of eighteen Years of Strabismus Surgery Analysis)].
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnostiNovel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.
Parkinsonism & related disordersMultiple cervical hemivertebra resection and staged thoracic pedicle subtraction osteotomy in the treatment of complicated congenital scoliosis.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society[The modern applications of radon therapy for the medical rehabilitation of the patients].
Voprosy kurortologii, fizioterapii, i lechebnoi fizicheskoi kulturyBotulinum Toxin Use in Pediatric Plastic Surgery.
Annals of plastic surgeryAbobotulinumtoxinA in the management of cervical dystonia in the United Kingdom: a budget impact analysis.
ClinicoEconomics and outcomes research : CEORBotulinum neurotoxins for the treatment of focal dystonias: Review of rating tools used in clinical trials.
Toxicon : official journal of the International Society on ToxinologyGABAergic Pharmacotherapy in the Treatment of Motor Disorders of the Central Nervous System.
Current pharmaceutical design[A Pediatric Case of Retropharyngeal Abscess Causing Multiple Instances of Cranial Nerve Palsy].
Nihon Jibiinkoka Gakkai kaihoPhenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.
Parkinsonism & related disorders[Typical Patterns of Neuronal Activity in Relay and Nonspecific Thalamic Nuclei in Patients with Spasmodic Torticollis].
Fiziologiia chelovekaEfficacy analysis of ultrasound-guided local injection of botulinum toxin type A treatment with orthopedic joint brace in patients with cervical dystonia.
European review for medical and pharmacological sciencesMolecular basis of immunogenicity to botulinum neurotoxins and uses of the defined antigenic regions.
Toxicon : official journal of the International Society on ToxinologySevere scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS).
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
American journal of human geneticsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Optimizing treatment for cervical dystonia: botulinum toxin alone or combined with physical therapy?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology· 2026· PMID 41483253mais citado
- Reorganization of Directed Corticomuscular Network via Median Nerve Stimulation in Cervical Dystonia.Movement disorders : official journal of the Movement Disorder Society· 2026· PMID 41786661mais citado
- Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.
- Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.
- Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.
- Labor Length Differences in Combination Ripening with 60 versus 30-mL Foley Inflation Volume: A Propensity Score-Matched Study.
- Altered transversus abdominis and internal oblique muscle activation during cervical motor control tasks in individuals with chronic neck pain: A surface EMG-based analysis.
- Efficacy of Combined Cervical Pessary and Progesterone in Women at High-Risk of Preterm Birth.
- Combined Cervical Cancer Screening and the Incidence of Adenocarcinoma: An Analysis of Data From the German Cancer Registries.
- Partial upper sternotomy for resection of a large substernal goiter in a high-risk patient.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:370114(Orphanet)
- MONDO:0018267(MONDO)
- Distonia e Espasticidade(PCDT · Ministério da Saúde)
- Busca completa no PubMed(PubMed)
- Q55787835(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
