Raras
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Distonia cervical sensível à dopamina
ORPHA:370114PCDT · SUSDOENÇA RARA

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.

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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.

Publicações científicas
217 artigos
Último publicado: 2026 Feb 26
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SUS: Cobertura mínimaScore: 30%
PCDT disponível
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

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Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Total histórico217PubMed
Últimos 10 anos200publicações
Pico202026 papers
Linha do tempo
20202015Hoje · 2026📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

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 Neurophysiology2026 Jan 02

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.

#2

Reorganization of Directed Corticomuscular Network via Median Nerve Stimulation in Cervical Dystonia.

Movement disorders : official journal of the Movement Disorder Society2026 Mar 05

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.

#3

Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.

European journal of medical genetics2026 Mar 02

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.

#4

Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.

European journal of medical genetics2026 Mar

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.

#5

Clinical, 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.)2026

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.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Reorganization of Directed Corticomuscular Network via Median Nerve Stimulation in Cervical Dystonia.

Movement disorders : official journal of the Movement Disorder Society
2026

Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.

European journal of medical genetics
2026

Clinical, 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.)
2026

Nonmotor symptoms of craniocervical dystonia: a multicentre international study-using the Dystonia nonmotor symptoms questionnaire.

Journal of neural transmission (Vienna, Austria : 1996)
2025

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.

Frontiers in endocrinology
2026

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
2025

Balance, Gait Kinematics, and Fear of Falling After a Four-Month Targeted Training Program in a Patient with Cervical Dystonia: A Case Report.

International journal of environmental research and public health
2025

Totally transaxillary endoscopic surgical release for congenital muscular torticollis.

Frontiers in surgery
2025

A study protocol for a randomized controlled trial to assess the effects of Baduanjin exercise on balance impairment in patients with cervical dystonia.

Frontiers in neurology
2025

Clinical efficacy of soft tissue micro-adjustment combined with traction in pediatric atlantoaxial subluxation: a randomised controlled study protocol using musculoskeletal ultrasound technology.

Frontiers in pediatrics
2026

Two-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 Toxinology
2026

Does the ability to stop ongoing movement differentiate cervical dystonia from functional cervical dystonia?

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2025

[Type 28 spinocerebellar ataxia].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2025

Predictability of cranial base strains as related to birth presentation: a review of literature.

Journal of osteopathic medicine
2025

Efficacy and safety analysis of massage and medium-frequency electrotherapy in the treatment of congenital muscular torticollis in infants.

Frontiers in pediatrics
2025

[The effectiveness of using a centrally acting muscle relaxant in combination with botulinum toxin injections in patients with spasmodic torticollis].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2025

Neurorehabilitation in Dystonia Care: Key Questions of Who Benefits, What Modalities, and When to Intervene.

Dystonia (Lausanne, Switzerland)
2025

Is Routine Neuroimaging Needed in Adult-Onset Isolated Cervical Dystonia?

Tremor and other hyperkinetic movements (New York, N.Y.)
2025

Home-based rehabilitation experience of children with congenital muscular torticollis: a qualitative study.

BMC nursing
2025

Diagnostic accuracy of screening tools for depression and anxiety in cervical dystonia.

Parkinsonism &amp; related disorders
2025

Phenotypic comparison between combined dystonia-parkinsonism and idiopathic adult-onset dystonia.

Journal of neural transmission (Vienna, Austria : 1996)
2025

Subthalamic Nucleus Oscillatory Characteristics in Meige, Cervical Dystonia and Generalized Dystonia.

Annals of clinical and translational neurology
2025

Combined intrathecal baclofen pump revision to the cervical level and lumbosacral ventral-dorsal rhizotomy for severe medically refractory hypertonia: illustrative cases.

Journal of neurosurgery. Case lessons
2025

Optimal botulinum toxin therapy of dystonia in Germany: what would it cost?

Journal of neural transmission (Vienna, Austria : 1996)
2025

Spasmodic dysphonia: the need for a combined neurological and phoniatric approach.

Journal of neural transmission (Vienna, Austria : 1996)
2025

The role of osteopathic manipulative treatment for dystonia: a literature review.

Journal of osteopathic medicine
2026

Recalcitrant Torticollis: A Formidable Treatment Challenge.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

Physiotherapy Intervention for a 1.5-Year-Old Child With Communicating Hydrocephalus and Developmental Delay Secondary to Torticollis: A Case Report.

Cureus
2024

A Comparative Study of Skeletal Muscle Relaxant Effects of Thiocolchicoside, Diazepam and Their Combination in Wistar Rats Using the Rotarod Apparatus.

Cureus
2024

Cost-Utility Analysis of Deep Brain Stimulation for Generalized and Cervical Dystonia: A Perspective from Brazilian Healthcare.

World neurosurgery
2024

Comprehensive comparative study of Chiari-like malformation in veterinary and human medicine.

Veterinarni medicina
2024

[Grisel's syndrome : about two cases of a atlantoaxial (C1-C2) subluxation].

Revue medicale de Liege
2024

Treatment response to onabotulinumtoxinA in cervical dystonia patients with anterocollis and retrocollis.

Toxicon : official journal of the International Society on Toxinology
2024

Approach to abnormal head posture.

Strabismus
2024

Torticollis as a rare, late complication of VP shunt placement in the pediatric population: a case report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Exercise effects on cortical excitability in pain populations: A systematic review and meta-analysis.

Physiotherapy research international : the journal for researchers and clinicians in physical therapy
2024

Combination of anodal tDCS of the cerebellum with a goal-oriented motor training to treat cervical dystonia: a pilot case series.

Frontiers in neurology
2024

The effect of combined surgery and physiotherapy on the facial asymmetry in patients with congenital muscular torticollis: a retrospective cohort study.

International journal of oral and maxillofacial surgery
2024

Successful treatment of cranial dystonia using a Zolpidem+Melatonin combination: A video case-series.

Journal of the neurological sciences
2024

Primary intramedullary extradural Ewing sarcoma.

Radiology case reports
2024

Cervicothoracic ventral-dorsal rhizotomy for bilateral upper-extremity hypertonia in cerebral palsy: illustrative case.

Journal of neurosurgery. Case lessons
2024

Exploring Heading Direction Perception in Cervical Dystonia, Tremor, and Their Coexistence.

Brain sciences
2024

A systematic review of Sandifer syndrome in children with severe gastroesophageal reflux.

Pediatric surgery international
2024

Impact of Physiotherapy in the Treatment of Pain in Cervical Dystonia.

Tremor and other hyperkinetic movements (New York, N.Y.)
2024

Therapeutic Effects of Dual Dopaminergic Modulation With l-DOPA and Chlorpromazine in Patients With Idiopathic Cervical Dystonia.

Neurology. Clinical practice
2024

The value of a head turn in neurolocalization.

Journal of veterinary internal medicine
2024

Traumatic posterior dislocation of atlanto-axial joint with anterior arch fracture in the patient of atlanto-occipital assimilation: A case report.

International journal of surgery case reports
2024

Effect 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
2023

[Analysis of a child with Verheij syndrome due to variant of PUF60 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

Experience with the management of 2599 cases of congenital muscular torticollis and a multicenter epidemiological investigation in 17 hospitals in China.

BMC musculoskeletal disorders
2023

Anatomical categorization of isolated non-focal dystonia: novel and existing patterns using a data-driven approach.

Dystonia (Lausanne, Switzerland)
2024

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
2023

"Pseudo"-Secondary Treatment Failure Explained via Disease Progression and Effective Botulinum Toxin Therapy: A Pilot Simulation Study.

Toxins
2023

Exploring the Interplay between the Clinical and Presumed Effect of Botulinum Injections for Cervical Dystonia: A Pilot Study.

Toxins
2023

The Challenge of Choosing the Right Stimulation Target for Dystonic Tremor-A Series of Instructive Cases.

Movement disorders clinical practice
2023

Treatment of an adult with osteoarthritis of the sternoclavicular joint combined with congenital myotonic strabismus.

Asian journal of surgery
2024

KinesioTaping: impact on non-motor symptoms in cervical dystonia patients treated with botulinum toxin injection.

Neurologia i neurochirurgia polska
2023

Identification and pathogenicity of multidrug-resistant Elizabethkingia miricola isolated from farmed American bullfrogs Rana catesbeiana in China with in vitro screening of herbal antimicrobial agents.

Journal of aquatic animal health
2023

Surgical Management of Adult Traumatic Atlantoaxial Rotatory Fixation with Hangman Fracture: Case Report and Literature Review.

The archives of bone and joint surgery
2023

Clinical Presentation and Management of Acute Dystonia from Drug Abuse or Misuse in Adolescents and Young Adults: A Retrospective Cohort Study in Bangkok, Thailand.

Emergency medicine international
2023

Mutation screening of AOPEP variants in a large dystonia cohort.

Journal of neurology
2024

Retrospective analysis of atlantoaxial rotatory fixation describing age distribution and gender ratio in children and adolescents: A preliminary report.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
2023

Validation of a guideline to reduce variability in diagnosing cervical dystonia.

Journal of neurology
2023

Mood symptoms in cervical dystonia: Relationship with motor symptoms and quality of life.

Clinical parkinsonism &amp; related disorders
2023

Secondary dystonia following parenchymal brain tumors.

Journal of the neurological sciences
2022

Effect of massage therapy on infants with congenital muscular torticollis: A retrospective comparative study.

Frontiers in pediatrics
2023

[Clinical Features of Common Types of Dystonia and Practical Approach for Occupational Dystonia].

Brain and nerve = Shinkei kenkyu no shinpo
2022

Combined effect of external treatment of herbal medicine and tuina in congenital muscular torticollis: Systematic review and meta-analysis.

Medicine
2022

Measurement Issue in Antecollis.

Tremor and other hyperkinetic movements (New York, N.Y.)
2022

The Prevalence of Idiopathic or Inherited Isolated Dystonia: A Systematic Review and Meta-Analysis.

Movement disorders clinical practice
2022

Screening for musculoskeletal system malformations and birth injuries in newborns: Results of a screening program in two hospitals in Shenzen, China.

Pediatric investigation
2023

The Effect of Cerebellar rTMS on Modulating Motor Dysfunction in Neurological Disorders: a Systematic Review.

Cerebellum (London, England)
2022

Adjuvant medical therapy in cervical dystonia after deep brain stimulation: A retrospective analysis.

Frontiers in neurology
2022

Retroform Cervical Dystonia: Target Muscle Selection and Efficacy of Botulinum Toxin Injection.

Frontiers in neurology
2022

Clinical Features, Neuroimaging, and Levodopa-Responsiveness in Holmes' Tremor: A Video-Based Case-Series with a Review of the Literature.

Movement disorders clinical practice
2022

Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.

Journal of neurology
2022

Clinical Reasoning: A 43-Year-Old Man With Subacute Onset of Vision Disturbances, Jaw Spasms, and Balance and Sleep Difficulties.

Neurology
2022

Role 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
2022

[WU Lian-zhong's experience in treating spasmodic torticollis by Kaiqiao Shunjin method].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2022

Hemi-atlas resection by combined approach: case report, literature review, and technical note.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Surgical approach in type II Peters anomaly - case report.

Romanian journal of ophthalmology
2022

Vim-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.)
2022

Neuropsychological Functioning in Primary Dystonia: Updated and Expanded Multidomain Meta-Analysis.

Movement disorders : official journal of the Movement Disorder Society
2022

State of Rehabilitation Research in the Head and Neck Cancer Population: Functional Impact vs. Impairment-Focused Outcomes.

Current oncology reports
2022

Movement Disorders and Musculoskeletal System: A Reciprocal Relationship.

Movement disorders clinical practice
2021

Unilateral Absence of Sternocleidomastoid and Ipsilateral Trapezius Presenting as Congenital Torticollis: A Case of a Rare Entity.

Cureus
2021

Facial Asymmetry in Unilateral Congenital Superior Oblique Muscle Palsy.

Optometry and vision science : official publication of the American Academy of Optometry
2021

Advanced Abdominal Pregnancy (AAP) after 20 Weeks of Gestation in Japan: A Retrospective Review.

Obstetrics and gynecology international
2021

How 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 journal
2021

Improvement of head and neck range of motion induced by chronic pallidal deep brain stimulation for cervical dystonia.

Journal of neural transmission (Vienna, Austria : 1996)
2023

Multipoint fixation with vascularised fibular bone graft and myotomy for atlanto-axial instability in cervical dystonia: a case report.

British journal of neurosurgery
2021

Botulinum toxin treatment of dystonic anterocollis: What to inject.

Parkinsonism &amp; related disorders
2021

[Summary on WEI Li-fu's experience in clinical treatment of spasmodic torticollis].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2021

Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions.

Neurology. Genetics
2021

Magnetic Resonance Imaging as the Primary Imaging Modality in Children Presenting with Inflammatory Nontraumatic Atlantoaxial Rotatory Subluxation.

Children (Basel, Switzerland)
2021

Embryological considerations and evaluation of congenital anomalies of craniovertebral junction: A single-center experience.

Tzu chi medical journal
2021

Long-term effects of pallidal and thalamic deep brain stimulation in myoclonus dystonia.

European journal of neurology
2021

The expanding clinical and genetic spectrum of ANO3 dystonia.

Neuroscience letters
2021

A metabolomic study of cervical dystonia.

Parkinsonism &amp; related disorders
2020

Development and Validation of a Disease-Specific Oromandibular Dystonia Rating Scale (OMDRS).

Frontiers in neurology
2021

A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.

Movement disorders : official journal of the Movement Disorder Society
2020

Advanced Simultaneous Isolation, Culture, and Identification of Myoblasts and Fibroblasts From Sternocleidomastoid Muscle of Congenital Muscular Torticollis.

The Journal of craniofacial surgery
2021

Botulinum toxin therapy of dystonia.

Journal of neural transmission (Vienna, Austria : 1996)
2020

Surgical Strategies for Cervical Deformities Associated With Neuromuscular Disorders.

Neurospine
2021

Neuronal Activity of Pallidal Versus Cerebellar Receiving Thalamus in Patients with Cervical Dystonia.

Cerebellum (London, England)
2020

Management of Anterocapitis and Anterocollis: A Novel Ultrasound Guided Approach Combined with Electromyography for Botulinum Toxin Injection of Longus Colli and Longus Capitis.

Toxins
2021

Sternocleidomastoid muscle asymmetry in unilateral congenital superior oblique palsy.

Eye (London, England)
2020

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 Strabismus
2020

A clinical improvement of a idiopathic cervical dystonia in a patient treated with transdermal Rotigotine: a case-report.

Acta bio-medica : Atenei Parmensis
2020

Demographics 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-facciale
2020

Use of AbobotulinumtoxinA in Adults with Cervical Dystonia: A Systematic Literature Review.

Toxins
2020

Grisel's syndrome post otolaryngology procedures: A systematic review.

International journal of pediatric otorhinolaryngology
2020

Bilateral pediatric pial arteriovenous fistulas accompanying a giant arachnoid cyst with torticollis: A case report.

Medicine
2020

A Rare Case of Spontaneous Intrauterine Skull Fracture.

Acta medica portuguesa
2020

The efficacy of single-photon emission computed tomography in identifying dystonic muscles in cervical dystonia.

Nuclear medicine communications
2020

[Cervical myelopathy in the hyperkinetic form of cerebral palsy: combination of botulinum therapy with surgical treatment].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2020

Cervical dystonia - improving the effectiveness of botulinum toxin therapy.

Neurologia i neurochirurgia polska
2020

Non-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
2020

[Highly dosed Anderson and Kestenbaum operations for anomalous head posture due to nystagmus].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
2020

Pallidal Activity in Cervical Dystonia with and Without Head Tremor.

Cerebellum (London, England)
2020

Smell and taste in cervical dystonia.

Journal of neural transmission (Vienna, Austria : 1996)
2020

Diagnosis and management of Sandifer syndrome in children with intractable neurological symptoms.

European journal of pediatrics
2020

Treatment of severe refractory dystonic tremor associated with cervical dystonia by bilateral deep brain stimulation: A case series report.

Clinical neurology and neurosurgery
2019

Slowed Movement Stopping in Parkinson's Disease and Focal Dystonia is Improved by Standard Treatment.

Scientific reports
2020

The 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 &amp; rehabilitation
2020

Frequency of different subtypes of cervical dystonia: a prospective multicenter study according to Col-Cap concept.

Journal of neural transmission (Vienna, Austria : 1996)
2020

One-Stage Anteroposterior Extensive Atlantoaxial Osteotomy Correction With 16 Months Follow-up: Technical Case Report.

Operative neurosurgery (Hagerstown, Md.)
2020

Impact of Candida auris Infection in a Neutropenic Murine Model.

Antimicrobial agents and chemotherapy
2020

Levodopa-responsive retrocollis on the background of choreic dyskinesia.

The International journal of neuroscience
2020

Hemodynamic responses are abnormal in isolated cervical dystonia.

Journal of neuroscience research
2019

Body Weight at Birth: The Only Risk Factor Associated with Contralateral Clavicular Fracture in Patients with Congenital Muscular Torticollis.

Scientific reports
2019

High Prevalence of Dystonia in the Faroe Islands: A Population-Based Study.

Neuroepidemiology
2019

IncobotulinumtoxinA and Deep Brain Stimulation.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2019

Types of materials for frontalis sling surgery for congenital ptosis.

The Cochrane database of systematic reviews
2019

Network-level connectivity is a critical feature distinguishing dystonic tremor and essential tremor.

Brain : a journal of neurology
2019

A randomized study of botulinum toxin versus botulinum toxin plus physical therapy for treatment of cervical dystonia.

Parkinsonism &amp; related disorders
2019

Measurement properties of instruments for assessment of cervical spine function in infants with torticollis: a systematic review.

European journal of pediatrics
2019

Cervical Spine Osteoblastoma with an Aneurysmal Bone Cyst in a 2-Year-Old Child: A Case Report.

Pediatric neurosurgery
2018

[Professor FANG Jianqiao's clinical experience in the treatment of primary cervical dystonia].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2019

Frequency-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 Association
2018

Risk Factor Genes in Patients with Dystonia: A Comprehensive Review.

Tremor and other hyperkinetic movements (New York, N.Y.)
2019

Use of Combined Botulinum Toxin and Physical Therapy for Treatment Resistant Congenital Muscular Torticollis.

Journal of pediatric orthopedics
2019

Deep Brain Stimulation Versus Peripheral Denervation for Cervical Dystonia: A Systematic Review and Meta-Analysis.

World neurosurgery
2018

Predictors of alcohol responsiveness in dystonia.

Neurology
2017

Clinicopathological 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
2018

[Non-drug therapy of vertigo].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2018

Combined Fractures Involving the Odontoid and Unilateral Superior Articular Processes of the Axis: A Report of Three Cases and Literature Review.

Journal of orthopaedic case reports
2018

Posterior 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 Neurosurgery
2018

Systematic Review of Rehabilitation in Focal Dystonias: Classification and Recommendations.

Movement disorders clinical practice
2018

Both Deep Brain Stimulation and Thalamotomy in a 13-Year-Old Patient with Primary Dystonia.

World neurosurgery
2018

Reappraising the role of motor surround inhibition in dystonia.

Journal of the neurological sciences
2018

A case of epidural glioblastoma metastasis presenting with a cervical myelopathy, torticollis, and L'hermitte's phenomenon.

Brain tumor pathology
2018

Endoscopic release of congenital muscular torticollis with radiofrequency in teenagers.

Journal of orthopaedic surgery and research
2018

Accessory Clavicular Sternocleidomastoid Causing Torticollis in an Adult.

Progress in rehabilitation medicine
2018

New Rhizotomy Procedure for Primary Spasmodic Torticollis.

The Journal of craniofacial surgery
2018

Traumatic C1-2 rotatory subluxation with dens and bilateral articular facet fractures of C2: A case report.

Medicine
2018

Cervical 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 Society
2017

Time to revisit tummy time: A commentary on plagiocephaly and development.

Paediatrics &amp; child health
2018

Pallidal deep brain stimulation modulates cortical excitability and plasticity.

Annals of neurology
2017

Muscle Selection for Focal Limb Dystonia.

Toxins
2017

Acute Dystonic Reaction Following General Anesthetic Agent Use.

Tremor and other hyperkinetic movements (New York, N.Y.)
2018

Selective Cervical Denervation for Cervical Dystonia: Modification of the Bertrand Procedure.

Operative neurosurgery (Hagerstown, Md.)
2017

Unresolved Congenital Torticollis and Its Consequences: A Report of 2 Cases.

Journal of chiropractic medicine
2017

Tremor in Dystonia: A Cross-sectional Study from India.

Movement disorders clinical practice
2017

Antibody 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 neuroimmunology
2017

Relationship 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 Neurology
2017

Physiology of midbrain head movement neurons in cervical dystonia.

Movement disorders : official journal of the Movement Disorder Society
2017

How Do I Treat Cervical Dystonia With Botulinum Toxin by Using Ultrasound?

Movement disorders clinical practice
2017

Factors influencing outcomes of the treatment of positional plagiocephaly in infants: a 7-year experience.

Journal of neurosurgery. Pediatrics
2017

Bilateral 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 Society
2016

Cerebellar Intermittent Theta-Burst Stimulation and Motor Control Training in Individuals with Cervical Dystonia.

Brain sciences
2017

A 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 rehabilitation
2016

Assessing 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 medicine
2016

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes.

Tremor and other hyperkinetic movements (New York, N.Y.)
2016

Sporadic and familial myoclonic dystonia: Report of three cases and review of literature.

Annals of Indian Academy of Neurology
2016

Custom neck orthosis in combination with onabotulinumtoxinA for the treatment of refractory congenital muscular torticollis: A case report.

Journal of pediatric rehabilitation medicine
2017

Surgical management of congenital torticollis in children older than 7 years with an average 10-year follow-up.

Journal of pediatric orthopedics. Part B
2016

The 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 Neurophysiology
2016

Participation of the thalamic CM-Pf complex in movement performance in patients with dystonia.

Movement disorders : official journal of the Movement Disorder Society
2015

Development of the Comprehensive Cervical Dystonia Rating Scale: Methodology.

Movement disorders clinical practice
2016

Behavioural interventions for people living with adult-onset primary dystonia: a systematic review.

BMC neurology
2016

Clinimetric testing of the comprehensive cervical dystonia rating scale.

Movement disorders : official journal of the Movement Disorder Society
2016

Cervical Scoliosis: Clinical and Radiographic Outcomes.

Global spine journal
2015

[Strabismus Sursoabductorius (put into the Context of eighteen Years of Strabismus Surgery Analysis)].

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti
2016

Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.

Parkinsonism &amp; related disorders
2016

Multiple 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
2015

[The modern applications of radon therapy for the medical rehabilitation of the patients].

Voprosy kurortologii, fizioterapii, i lechebnoi fizicheskoi kultury
2016

Botulinum Toxin Use in Pediatric Plastic Surgery.

Annals of plastic surgery
2015

AbobotulinumtoxinA in the management of cervical dystonia in the United Kingdom: a budget impact analysis.

ClinicoEconomics and outcomes research : CEOR
2015

Botulinum neurotoxins for the treatment of focal dystonias: Review of rating tools used in clinical trials.

Toxicon : official journal of the International Society on Toxinology
2015

GABAergic Pharmacotherapy in the Treatment of Motor Disorders of the Central Nervous System.

Current pharmaceutical design
2015

[A Pediatric Case of Retropharyngeal Abscess Causing Multiple Instances of Cranial Nerve Palsy].

Nihon Jibiinkoka Gakkai kaiho
2015

Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.

Parkinsonism &amp; related disorders
2015

[Typical Patterns of Neuronal Activity in Relay and Nonspecific Thalamic Nuclei in Patients with Spasmodic Torticollis].

Fiziologiia cheloveka
2015

Efficacy 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 sciences
2015

Molecular basis of immunogenicity to botulinum neurotoxins and uses of the defined antigenic regions.

Toxicon : official journal of the International Society on Toxinology
2015

Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS).

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
2015

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

American journal of human genetics

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

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Ainda não achamos doenças com sintomas parecidos o suficiente.

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.

  1. 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
  2. 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
  3. Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.
    European journal of medical genetics· 2026· PMID 41780719mais citado
  4. Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.
    European journal of medical genetics· 2026· PMID 41747888mais citado
  5. Clinical, 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.)· 2026· PMID 41694796mais citado
  6. Labor Length Differences in Combination Ripening with 60 versus 30-mL Foley Inflation Volume: A Propensity Score-Matched Study.
    Am J Perinatol· 2026· PMID 41713865recente
  7. Altered transversus abdominis and internal oblique muscle activation during cervical motor control tasks in individuals with chronic neck pain: A surface EMG-based analysis.
    J Back Musculoskelet Rehabil· 2026· PMID 41707670recente
  8. Efficacy of Combined Cervical Pessary and Progesterone in Women at High-Risk of Preterm Birth.
    Diagnostics (Basel)· 2026· PMID 41681719recente
  9. Combined Cervical Cancer Screening and the Incidence of Adenocarcinoma: An Analysis of Data From the German Cancer Registries.
    Dtsch Arztebl Int· 2026· PMID 41636156recente
  10. Partial upper sternotomy for resection of a large substernal goiter in a high-risk patient.
    J Surg Case Rep· 2026· PMID 41568309recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:370114(Orphanet)
  2. MONDO:0018267(MONDO)
  3. Distonia e Espasticidade(PCDT · Ministério da Saúde)
  4. Busca completa no PubMed(PubMed)
  5. 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.

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Distonia cervical sensível à dopamina
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Distonia cervical sensível à dopamina

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