Uma distonia que não faz parte de um conjunto de problemas de saúde mais abrangente.
Introdução
O que você precisa saber de cara
Uma distonia que não faz parte de um conjunto de problemas de saúde mais abrangente.
Tem tratamento?
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 35 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 95 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
11 genes identificados com associação a esta condição.
Collagen VI acts as a cell-binding protein
Secreted, extracellular space, extracellular matrix
Bethlem myopathy 1C
A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. BTHLM1C inheritance is autosomal dominant.
Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides (PubMed:10373451, PubMed:10393245, PubMed:16330539, PubMed:17389385, PubMed:27058447). Can hydrolyze both cAMP and cGMP, but has higher affinity for cAMP and is more efficient with cAMP as substrate (PubMed:10373451, PubMed:10393245, PubMed:17389385, PubMed:27058447). May play a critical role in regulating cAMP and cGMP levels in the striatum, a region of the brain that contributes to the cont
Cytoplasm, cytosol
Dyskinesia, limb and orofacial, infantile-onset
An autosomal recessive, early-onset hyperkinetic movement disorder characterized by axial hypotonia, dyskinesia of the limbs and trunk, orofacial dyskinesia, drooling, and dysarthria. The severity of the hyperkinesis is variable.
DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptotic activity by potentiating both serum-withdrawal and TNF-induced apoptosis
Nucleus, nucleoplasmNucleus, PML body
Dystonia 6, torsion
A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.
Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin
Cytoplasm, cytoskeleton
Dystonia 4, torsion, autosomal dominant
A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT4 is characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait.
Guanine nucleotide-binding protein (G protein) involved as transducer in olfactory signal transduction controlled by G protein-coupled receptors (GPCRs) (By similarity). Contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (By similarity). Signaling by an activated GPCR promotes GDP release and GTP binding (By similarity). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the
Cell membrane
Dystonia 25
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs.
Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide (By similarity). Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (PubMed:21984732)
Cell membrane
Dystonia 24
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT24 is an autosomal dominant focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs.
May regulate the subcellular localization of CIP/WAF1
Nucleus
Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA
Cytoplasm, cytosolNucleus, nucleoplasm
Dystonia 35, childhood-onset
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT35 is an autosomal recessive form characterized by the onset of a dystonic movement disorder in the first year of life.
IFN-induced dsRNA-dependent serine/threonine-protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) and plays a key role in the innate immune response to viral infection (PubMed:18835251, PubMed:19189853, PubMed:19507191, PubMed:21072047, PubMed:21123651, PubMed:22381929, PubMed:22948139, PubMed:23229543). Inhibits viral replication via the integrated stress response (ISR): EIF2S1/eIF-2-alpha phosphorylation in response to viral in
CytoplasmNucleusCytoplasm, perinuclear region
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
An autosomal dominant disorder characterized by global developmental delay apparent in early childhood, cognitive impairment, ataxia, poor or absent speech with dysarthria, hypotonia, hypertonia, extrapyramidal signs, tremor, and abnormal involuntary movements. Affected individuals also exhibit neurological regression in the setting of febrile illness or infection. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities with poor myelination.
Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specificall
Endoplasmic reticulum lumenNucleus membraneCell projection, growth coneCytoplasmic vesicle membraneCytoplasmic vesicle, secretory vesicleCytoplasmic vesicle, secretory vesicle, synaptic vesicleCytoplasm, cytoskeleton
Dystonia 1, torsion, autosomal dominant
A primary torsion dystonia, and the most common and severe form. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 1 is characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body, in the absence of other neurological symptoms. Typically, symptoms develop first in an arm or leg in middle to late childhood and progress in approximately 30% of patients to other body regions (generalized dystonia) within about five years. 'Torsion' refers to the twisting nature of body movements observed in DYT1, often affecting the trunk. Distribution and severity of symptoms vary widely between affected individuals, ranging from mild focal dystonia to severe generalized dystonia, even within families.
Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels (PubMed:28398555). May also play a role in cyclic-nucleotide-mediated signaling through the regulation of adenylate and guanylate cyclases (By similarity)
Cytoplasm, cytosolMembrane
Dystonia 2, torsion, autosomal recessive
A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions.
Medicamentos e terapias
Mecanismo: Synaptosomal nerve-associated protein 25 (SNAP-25) inhibitor
Mecanismo: Voltage-gated N-type calcium channel alpha-1B subunit blocker
Mecanismo: Synaptosomal nerve-associated protein 25 (SNAP-25) inhibitor
Variantes genéticas (ClinVar)
836 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
53 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Distonia primária de torção
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
4 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
Clinical Presentation and Evolution of Isolated Focal and Segmental Dystonia in Adults - 20 Years' Experience from a Botulinum Toxin Clinic.
Isolated dystonia generally occurs due to genetic causes, and the pattern and distribution may change over time. Botulinum toxin is the first-line treatment in those with isolated focal and segmental dystonia. We aimed to describe the clinical profile and evolution of adult patients with isolated focal and segmental dystonia presenting for treatment in our botulinum neurotoxin (BoNT) clinic, and the response to treatment, over 20 years. We retrospectively reviewed the medical records of patients with isolated focal and segmental dystonia who had at least two visits in our BoNT clinic. The clinical features at presentation and during follow-up, muscles injected for each type of dystonia, the self-reported benefit with BoNT, and adverse effects were analyzed. Five hundred seventy-eight patients with isolated dystonia were injected and had at least one additional follow-up. Five hundred seventeen (89.4%) had focal dystonia, and 61 (10.6%) had segmental dystonia. Cervical dystonia was the most common type. Spread to other regions was seen in 81 (14%) of patients. Those with blepharospasm as initial presentation tended to have the highest occurrence (27.3%) of spread to other parts. The mean response to BoNT was around 68%. The presence of a sensory trick and the absence of tremor were found to be predictors of good outcomes with BoNT. Isolated focal and segmental dystonia in adults has a good prognosis, with the majority responding well to BoNT and the dystonia remaining confined to the initially affected body part. Our study provides evidence for the response to BoNT therapy in a real-world scenario, outside of a clinical trial setting.
Is segmental/multifocal onset a distinct presentation of idiopathic adult-onset dystonia?
Idiopathic adult-onset dystonia (IAOD) is classically considered to begin focally, although segmental or multifocal onset has been reported in retrospective series. Whether this reflects a true early presentation or recall bias remains uncertain. To determine whether segmental/multifocal onset represents a distinct presentation of IAOD and to assess whether these patients differ from those with focal onset. We analyzed dystonia body distribution at first neurological evaluation in 863 patients from the Italian Dystonia Registry, all examined by expert neurologists within one year of symptom onset to minimize recall bias. Segmental or multifocal onset occurred in 10 % of cases. This proportion remained stable across increasing intervals between symptom onset and first evaluation, arguing against recall bias. Patients with segmental/multifocal onset did not differ from those with focal onset in sex, age at onset, family history of dystonia, frequency of thyroid disease, or subsequent spread to additional body regions. IAOD can present with segmental or multifocal onset, and this is unlikely to reflect recall bias. Moreover, patients with segmental/multifocal onset do not differ in factors potentially linked to disease initiation or subsequent spread compared with those with focal onset. These findings may have implications for prognostic counseling in IAOD. DYT1-TOR1A is an isolated dystonia with onset typically in childhood (median age of onset: 9 years; interquartile range: 7-12 years). About 5% of individuals have onset after age 30 years. Dystonia typically begins in a leg or arm. While onset can occur in axial, cervical, or cranial regions, these are far less common than onset in a limb. Pain is not a prominent finding. Initially, dystonia is typically triggered by specific actions, presenting as a change in gait (e.g., foot inversion or abnormal flexion of the knee or hip) or as writer's cramp, characterized by tightening and/or posturing of the hand or arm with writing. Over time, dystonic movements become less action specific and may be present at rest. Dystonia can also spread to other body regions, progressing over months to years to "generalized dystonia" involving other limbs and the trunk. In individuals with onset in a leg, progression of dystonia is common. In approximately 20% of individuals dystonia remains restricted to a single body region, most often as writer's cramp. Once dystonic movements appear, they usually persist lifelong. Status dystonicus, the most severe manifestation of dystonia that requires emergent hospitalization, can occur but is not common in DYT-TOR1A. Life span in DYT-TOR1A is not known to be shortened. The diagnosis of DYT-TOR1A is established in a proband with suggestive findings and a heterozygous pathogenic variant in TOR1A identified by molecular genetic testing. More than 98% of affected individuals have the 3-bp deletion c.907_909delGAG involving the highly conserved GAGGAG sequence in exon 5. Treatment of manifestations: A movement disorder specialist should be involved at an early stage to discuss pharmacologic and/or surgical treatment options to relieve manifestations of dystonia. Timely medical intervention and appropriate referral for consideration of globus pallidus internus deep brain stimulation is recommended to optimally treat manifestations, minimize disability, and prevent long-term orthopedic complications such as joint contractures or spine deformities. Physiatry and physical therapy to tailor exercise programs to maintain function and prevent secondary orthopedic complications (e.g., joint contractures, hip dislocation, and/or kyphoscoliosis), provide adaptative aids, and support and maintain ambulation; occupational therapy to address fine motor skills (e.g., feeding, grooming, dressing, and writing); mental health specialist to address possible depression and/or anxiety concerning disease manifestations/progression. Surveillance: Regularly scheduled follow up with treating clinicians to monitor existing manifestations, the individual's response to treatment and supportive care, and the emergence of new manifestations. Agents/circumstances to avoid: Unless medically necessary, avoid immobilization with bracing or casting of the parts of the body affected by dystonia, which can worsen dystonia. DYT-TOR1A is inherited in an autosomal dominant manner. Most individuals diagnosed with DYT-TOR1A inherit a pathogenic variant from a parent. Each child of an individual with DYT-TOR1A has a 50% chance of inheriting the TOR1A pathogenic variant. The penetrance for the TOR1A c.907_909delGAG deletion is approximately 30%; thus, on average, 30% of individuals who inherit the TOR1A c.907_909delGAG deletion develop dystonia and 70% do not develop dystonia. DYT-TOR1A is associated with significant intrafamilial variability; thus, dystonia in an affected individual may be more or less severe than that of the parent from whom the TOR1A pathogenic variant was inherited. Once the TOR1A pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing for DYT-TOR1A are possible.
The Pain in Dystonia Scale (PIDS)-Validation in Craniofacial and Upper Limb Dystonia.
Pain is one of the most disabling non-motor symptoms in adult-onset isolated dystonia (AOID). The Pain in Dystonia Scale (PIDS) was developed and validated in cervical dystonia. Its applicability to other focal subtypes remains unknown. To validate the PIDS in patients with craniofacial and upper limb dystonia, expanding its use beyond cervical dystonia. We conducted a two-phase cross-sectional validation study in independent cohorts from Calgary, Canada and Italy. The Calgary pilot cohort (n = 20) included participants with craniofacial and/or upper limb dystonia who completed the PIDS twice for test-retest reliability and a battery of comparator scales. The Italian cohort (n = 109) was recruited through the Italian Dystonia Registry and completed the PIDS after cross-cultural adaptation. Internal consistency, test-retest reliability, construct validity, and distribution properties were assessed using established psychometric standards. Pain was highly prevalent (90.0% Calgary; 96.3% Italy), with anatomical distribution varying by dystonia subtype. Internal consistency was high across both cohorts (Cronbach's alpha 0.82-0.96), with minimal floor and ceiling effects. Test-retest reliability in the pilot cohort was excellent (ICC = 0.85). Construct validity was supported by strong correlations between PIDS scores and established pain and quality-of-life measures. Functional impact and pain modulators were consistently reported across cohorts, with stress identified as the most frequent aggravating factor and rest and stretching as common relieving factors. The PIDS demonstrates reliability, validity, and feasibility in craniofacial and upper limb dystonia, supporting its adoption for evaluating dystonia-related pain in clinical and research settings across the main focal subtypes.
DYT-AOPEP: A case series from India expanding the clinical and genetic spectrum.
DYT-AOPEP (Aminopeptidase O) or DYT31 is a rare, newly discovered genetic cause of autosomal recessive monogenic adult-onset isolated dystonia. We describe three Indian patients with likely pathogenic variants in the AOPEP gene, expanding the clinicogenetic spectrum DYT-AOPEP. First proband presented with adult-onset generalised isolated dystonia, which was medically refractory, but responded to GPi-DBS. He harboured a homozygous splice site variant (NM_001193329.3:c.1916+1G > C). The second proband had adult-onset isolated generalised dystonia without any family history, which started in her lower limb. She carried a homozygous stop-gain variant [NM_001193329.3:c.617dup; (p.Tyr206∗)]. The third proband had oromandibular dystonia progressing to generalised dystonia with a homozygous missense stop-gain variant [NM_001193329.3:c.895C > T; (p.Arg299∗)]in the AOPEP gene. A total of eighteen patients have been described in the literature so far with variable age of onset, isolated limb-onset dystonia, or cervical dystonia, most characteristically retrocollis and is sometimes associated with parkinsonism. Some patients develop mixed hyperkinetic movement disorders. Pallidal deep-brain stimulation is a good therapeutic option in medically refractory cases. AOPEP is a recently identified gene within the expanding spectrum of dystonia-associated genes. An increasing number of patients with pathogenic variants have been reported in recent studies, supporting its consideration for inclusion in dystonia gene panels and broader population-based screening.
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.
DYT-VPS16, an early-onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. We explored the clinical and genotypic spectrum of DYT-VPS16 by investigating early-onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene-matching initiatives. Patient samples were analyzed by exome/Sanger and RNA/cDNA sequencing. We identified 16 previously unreported DYT-VPS16 patients (7 male, median age at onset [AAO]: 12 years). Patients with initial leg involvement had an AAO more than 10 years earlier than those with involvement of the arms/craniocervical region. Dystonia progressed in 95%, generalized in 50%, and was accompanied by pyramidal, cerebellar, or psychiatric features in 25% of patients. Two young individuals benefited greatly from timely deep brain stimulation (DBS) surgery. Of the 11 identified VPS16 variants, 10 were novel. Utilizing RNA-Seq or cDNA sequencing, we discovered alternatively spliced transcripts, thereby elucidating the effects of splice-site, near-splice-site, and exonic variants. We expand the phenotypic and mutational spectrum of DYT-VPS16, emphasize the utility of RNA-Seq in clarifying VPS16 variant pathogenicity, and advocate for timely DBS as a promising therapeutic option for DYT-VPS16 patients. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Publicações recentes
Clinical efficacy of neuromodulation in isolated dystonia: A systematic review of motor function improvement.
Clinical Presentation and Evolution of Isolated Focal and Segmental Dystonia in Adults - 20 Years' Experience from a Botulinum Toxin Clinic.
The Pain in Dystonia Scale (PIDS)-Validation in Craniofacial and Upper Limb Dystonia.
DYT-AOPEP: A case series from India expanding the clinical and genetic spectrum.
📚 EuropePMC105 artigos no totalmostrando 195
Clinical Presentation and Evolution of Isolated Focal and Segmental Dystonia in Adults - 20 Years' Experience from a Botulinum Toxin Clinic.
Annals of Indian Academy of NeurologyThe Pain in Dystonia Scale (PIDS)-Validation in Craniofacial and Upper Limb Dystonia.
Movement disorders clinical practiceDYT-AOPEP: A case series from India expanding the clinical and genetic spectrum.
Parkinsonism & related disordersFunctional Connectivity to the Cerebellum and Resting-State Networks Predict Earlier Improvement of Dystonia Following Globus Pallidus Internus-Deep Brain Stimulation (GPi-DBS).
Movement disorders : official journal of the Movement Disorder SocietyIs segmental/multifocal onset a distinct presentation of idiopathic adult-onset dystonia?
Journal of the neurological sciencesExpanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.
Movement disorders : official journal of the Movement Disorder SocietyRare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder SocietySegmental and Multifocal Isolated Dystonias: Similarities and Differences.
Movement disorders clinical practiceEnvironmental Risk Factors in Isolated Dystonia: A Systematic Scoping Review.
Annals of Indian Academy of NeurologyAssociation of alcohol responsiveness and non-motor symptoms in isolated adult-onset dystonia.
Journal of neurologyEffectiveness and safety of subthalamic nucleus deep brain stimulation in isolated generalised or segmental dystonia (SUNDYS trial): a study protocol.
British journal of neurosurgeryMouse Gnal transcripts and transcriptomics in isolated dystonia.
Research squareCharacterization of mice with cell type-specific Gnal loss of function provides insights on GNAL-linked dystonia.
Neurobiology of diseaseSocial determinants of health and health-related quality of life in individuals with isolated dystonia.
Dystonia (Lausanne, Switzerland)Structural Alterations in the Gray Matter Volume in Rapid-Onset Dystonia-Parkinsonism.
Movement disorders : official journal of the Movement Disorder SocietyNon-Motor Symptoms and Health-Related Quality of Life in Patients with Isolated Dystonia: A Cross-Sectional Study.
Healthcare (Basel, Switzerland)Altered Functional Brain Connectivity in Dyt1 Knock-in mouse models.
Dystonia (Lausanne, Switzerland)Oscillatory dynamics in isolated dystonia: five hundred hours of chronic invasive multisite motor network recordings.
Journal of neurophysiologyRare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.
medRxiv : the preprint server for health sciencesGenetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Annals of clinical and translational neurologyPallidal Deep Brain Stimulation Enhances Habitual Behavior in a Neuro-Computational Basal Ganglia Model During a Reward Reversal Learning Task.
The European journal of neuroscienceMyoclonic Dystonia: A Common Phenomenology in the Pleomorphic Movements of Angelman Syndrome.
Movement disorders clinical practiceRemote Programming for Deep Brain Stimulation among Patients with Isolated Dystonia: Patient Attitudes and Treatment Effect.
Movement disorders clinical practiceAcute hand dystonia and action myoclonus unveiling diabetic striatopathy: The critical role of hyperglycemia.
The journal of the Royal College of Physicians of EdinburghTOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism.
Parkinsonism & related disordersLong-Term Outcomes on Pallidal Neurostimulation for Dystonia: A Controlled, Prospective 10-Year Follow-Up.
Movement disorders : official journal of the Movement Disorder SocietyAlternative Deep Brain Stimulation Targets in the Treatment of Isolated Dystonic Syndromes: A Multicenter Experience-Based Survey.
Movement disorders clinical practiceSustained quality-of-life improvements over 10 years after subthalamic nucleus deep brain stimulation for isolated dystonia.
Journal of neurologyEngaging dystonia networks with subthalamic stimulation.
Proceedings of the National Academy of Sciences of the United States of AmericaAn Open-Label Pilot Study to Examine the Safety, Tolerability and Efficacy of Deutetrabenazine in Isolated Dystonia.
Movement disorders clinical practiceGenetic Landscape of Dystonia in Asian Indians.
Movement disorders clinical practiceRisk of Spreading in Adult-onset Dystonia.
Tremor and other hyperkinetic movements (New York, N.Y.)Genome Aggregation Database Version 4-Allele Frequency Changes and Impact on Variant Interpretation in Dystonia.
Movement disorders : official journal of the Movement Disorder SocietyGeneration of four human-derived iPSC TorsinA-3xFLAG reporter lines from a DYT-TOR1A patient.
Stem cell researchEarly-Onset Isolated Dystonia Associated with COL6A3 Mutation Responsive to Deep Brain Stimulation.
Movement disorders clinical practiceImpact of Audio-Visual Complexity on Symptomatology of Laryngeal Dystonia: A Virtual Reality Study.
The LaryngoscopeStriatal cholinergic transmission in an inducible transgenic mouse model of paroxysmal non-kinesiogenic dyskinesia.
Neurobiology of diseaseClinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson's Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature.
Journal of movement disordersGenetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.
Movement disorders : official journal of the Movement Disorder SocietyConditional Knockout of Striatal Gnal Produces Dystonia-like Motor Phenotypes.
bioRxiv : the preprint server for biologyPallidal Versus Subthalamic Deep-Brain Stimulation for Generalized Isolated Dystonia: A Retrospective Study.
Journal of clinical medicineNeural correlates of anxiety in adult-onset isolated dystonia.
NeuroscienceA Classic Cornelia De Lange Syndrome Type 5 (CdLS5) With a De Novo Missense Variation of p.Gly210Arg in the HDAC8 Gene With a Novel Phenotype of Generalized Dystonia.
CureusPrediction of subthalamic stimulation efficacy on isolated dystonia via support vector regression.
HeliyonA GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity?
Movement disorders : official journal of the Movement Disorder SocietyDominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Movement disorders clinical practiceLessons from multitarget neurostimulation in isolated dystonia: Less is more?
Brain stimulationAn Empirical Comparison of Commonly Used Universal Rating Scales for Dystonia.
Movement disorders clinical practiceLongitudinal predictors of health-related quality of life in isolated dystonia.
Journal of neurologyDeep Brain Stimulation for Dystonia: Experience of a Moroccan University Hospital.
Pediatric neurologyTemporal Signature of Task-Specificity in Isolated Focal Laryngeal Dystonia.
Movement disorders : official journal of the Movement Disorder SocietyWhat can epidemiological studies teach on the pathophysiology of adult-onset isolated dystonia?
International review of neurobiologyBlood neurofilament light chain as a surrogate marker for dystonia.
European journal of neurologyMachine versus physician-based programming of deep brain stimulation in isolated dystonia: A feasibility study.
Brain stimulationNeuropathology and morphometry of dentate nucleus neurons in DYT1 brains: Cerebellar abnormalities in isolated dystonia.
Journal of neuropathology and experimental neurologyClinical Implications of Dystonia as a Neural Network Disorder.
Advances in neurobiologyGlobus pallidus internus versus subthalamic nucleus deep brain stimulation for isolated dystonia: A 3-year follow-up.
European journal of neurologyNeuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review.
Brain and behaviorA novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia.
Frontiers in neurologyIsolated Dystonia as an Initial Presentation of GDAP2-Related Disorder.
Movement disorders clinical practiceIsolated Dystonia with NMDAR Antibodies: Expanding the Phenotype or Illustrating the Intricacies of Antibody Testing?
Movement disorders clinical practiceExploring clinical outcomes in patients with idiopathic/inherited isolated generalized dystonia and stimulation of the subthalamic region.
Arquivos de neuro-psiquiatriaDevelopment of a New Care Pathway for Depression and Anxiety in Adult-Onset Isolated Dystonia.
Movement disorders clinical practiceMutation screening of AOPEP variants in a large dystonia cohort.
Journal of neurologyVariants in ATP5F1B are associated with dominantly inherited dystonia.
Brain : a journal of neurologyPallidal neuromodulation of the explore/exploit trade-off in decision-making.
eLifeChildhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review.
Movement disorders clinical practiceMDSGene: Extending the List of Isolated Dystonia Genes by VPS16, EIF2AK2, and AOPEP.
Movement disorders : official journal of the Movement Disorder SocietyGenetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia.
Clinical geneticsSensory processing in the auditory and olfactory domains is normal in laryngeal dystonia.
Journal of neurologyTranscriptional regulatory network for neuron-glia interactions and its implication for DYT6 dystonia.
Dystonia (Lausanne, Switzerland)DystoniaBoTXNet: Novel Neural Network Biomarker of Botulinum Toxin Efficacy in Isolated Dystonia.
Annals of neurologyEffects of Botulinum Toxin Therapy on Health-Related Quality of Life Evaluated by the Oromandibular Dystonia Rating Scale.
ToxinsThe Prevalence of Idiopathic or Inherited Isolated Dystonia: A Systematic Review and Meta-Analysis.
Movement disorders clinical practiceRescue procedure for isolated dystonia after the secondary failure of globus pallidus internus deep brain stimulation.
Frontiers in neuroscienceLong-Term Outcome of Subthalamic Deep Brain Stimulation for Generalized Isolated Dystonia.
Neuromodulation : journal of the International Neuromodulation SocietyLong-Term Outcomes of Idiopathic and Acquired Dystonia After Pallidal Deep Brain Stimulation: A Case Series.
World neurosurgeryThe epidemiology of dystonia: the Hannover epidemiology study.
Journal of neurologyDYT-TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review.
Movement disorders clinical practiceDiagnosis and classification of blepharospasm: Recommendations based on empirical evidence.
Journal of the neurological sciencesScreening of the TMEM151A Gene in Patients With Paroxysmal Kinesigenic Dyskinesia and Other Movement Disorders.
Frontiers in neurologyUnravelling dystonic pain; a mixed methods survey to explore the language of dystonic pain and impact on life.
Disability and rehabilitationEye Movement Disorders in Movement Disorders.
Movement disorders clinical practiceOptimal deep brain stimulation sites and networks for cervical vs. generalized dystonia.
Proceedings of the National Academy of Sciences of the United States of AmericaA Critical Investigation of Cerebellar Associative Learning in Isolated Dystonia.
Movement disorders : official journal of the Movement Disorder SocietyAOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
Parkinsonism & related disordersA randomised double-blind controlled study of Deep Brain Stimulation for dystonia in STN or GPi - A long term follow-up after up to 15 years.
Parkinsonism & related disordersPossible EIF2AK2-Associated Stress-Related Neurological Decompensation with Combined Dystonia and Striatal Lesions.
Movement disorders clinical practiceCurrent Guidelines for Classifying and Diagnosing Cervical Dystonia: Empirical Evidence and Recommendations.
Movement disorders clinical practiceLong-term effects of pallidal deep brain stimulation in tardive dystonia: a follow-up of 5-14 years.
Journal of neurologyCerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia.
Movement disorders : official journal of the Movement Disorder SocietyA Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan.
The Journal of molecular diagnostics : JMDIntraparenchymal Symptomatic Cyst Formation Around the Deep Cerebellar Stimulation Electrode.
World neurosurgeryPredicting Outcome in a Cohort of Isolated and Combined Dystonia within Probabilistic Brain Mapping.
Movement disorders clinical practiceA pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.
Human molecular genetics[Analysis of long-term efficacy and influencing factors of subthalamic nuclear stimulation for isolated dystonia].
Zhonghua yi xue za zhiBiallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Movement disorders : official journal of the Movement Disorder SocietyBreathing dystonia in Meige syndrome.
Clinical parkinsonism & related disordersSecond hit hypothesis in dystonia: Dysfunctional cross talk between neuroplasticity and environment?
Neurobiology of diseaseA Case of YY1-Related Isolated Dystonia with Severe Oromandibular Involvement.
Movement disorders : official journal of the Movement Disorder SocietyAcoustic, perceptual and clinical correlates of speech and voice in isolated dystonia: Preliminary findings.
International journal of language & communication disordersThe prevalence of anxiety in adult-onset isolated dystonia: A systematic review and meta-analysis.
European journal of neurologyGut Microbiome and Serum Metabolome Alterations Associated with Isolated Dystonia.
mSphereA Multi-center Genome-wide Association Study of Cervical Dystonia.
Movement disorders : official journal of the Movement Disorder SocietyAn Open-Label Phase 2a Study to Evaluate the Safety and Tolerability of Perampanel in Cervical Dystonia.
Movement disorders clinical practiceHigh prevalence of self-reported non-motor symptoms and lack of correlation with motor severity in adult patients with idiopathic isolated dystonia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyPredictive modeling of spread in adult-onset isolated dystonia: Key properties and effect of tremor inclusion.
European journal of neurologyTremor in Primary Monogenic Dystonia.
Current neurology and neuroscience reportsDeep Learning for the Assisted Diagnosis of Movement Disorders, Including Isolated Dystonia.
Frontiers in neurologyRescue of striatal long-term depression by chronic mGlu5 receptor negative allosteric modulation in distinct dystonia models.
NeuropharmacologyStudy of the collagen type VI alpha 3 (COL6A3) gene in Parkinson's disease.
BMC neurologyA Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia.
Annals of neurologyLaryngeal Dystonia: Multidisciplinary Update on Terminology, Pathophysiology, and Research Priorities.
NeurologyComparative study between idiopathic and non-idiopathic dystonia: a prospective observational study.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyWeight Change After Subthalamic Nucleus Deep Brain Stimulation in Patients With Isolated Dystonia.
Frontiers in neurologyGeneration of patient-specific induced pluripotent stem cell line (CSUi002-A) from a patient with isolated dystonia carrying TOR1A mutation.
Stem cell researchClinically relevant copy-number variants in exome sequencing data of patients with dystonia.
Parkinsonism & related disordersDystonia updates: definition, nomenclature, clinical classification, and etiology.
Journal of neural transmission (Vienna, Austria : 1996)EEG measures of sensorimotor processing and their development are abnormal in children with isolated dystonia and dystonic cerebral palsy.
NeuroImage. ClinicalQuality of life in isolated dystonia: non-motor manifestations matter.
Journal of neurology, neurosurgery, and psychiatryLinking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.
Movement disorders : official journal of the Movement Disorder SocietySuicidal Ideations and Attempts in Patients With Isolated Dystonia.
NeurologyGenotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Movement disorders : official journal of the Movement Disorder SocietyCase Report: Isolated Lingual Dystonia.
F1000ResearchPallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.
Frontiers in neurologyMutation screening of VPS16 gene in patients with isolated dystonia.
Parkinsonism & related disordersThe expanding clinical and genetic spectrum of ANO3 dystonia.
Neuroscience lettersAsleep Deep Brain Stimulation in Patients With Isolated Dystonia: Stereotactic Accuracy, Efficacy, and Safety.
Neuromodulation : journal of the International Neuromodulation SocietyNeural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation.
Neurobiology of diseaseMonogenic Causes of Dystonic Syndromes: Common in Dystonic Cerebral Palsy, Rare in Isolated Dystonia.
Movement disorders : official journal of the Movement Disorder SocietyThalamic deep brain stimulation for acquired dystonia in children and young adults: a phase 1 clinical trial.
Journal of neurosurgery. PediatricsIsolated dystonia: clinical and genetic updates.
Journal of neural transmission (Vienna, Austria : 1996)Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.
European journal of neurologyHigh Frequency Deep Brain Stimulation of Superior Cerebellar Peduncles in a Patient with Cerebral Palsy.
Tremor and other hyperkinetic movements (New York, N.Y.)Monogenic variants in dystonia: an exome-wide sequencing study.
The Lancet. NeurologyDystonia and Tremor: A Cross-Sectional Study of the Dystonia Coalition Cohort.
NeurologyMotor and Sensory Features of Cervical Dystonia Subtypes: Data From the Italian Dystonia Registry.
Frontiers in neurologyA microstructural neural network biomarker for dystonia diagnosis identified by a DystoniaNet deep learning platform.
Proceedings of the National Academy of Sciences of the United States of AmericaCortical neurophysiology of primary isolated dystonia and non-dystonic adults: A meta-analysis.
The European journal of neuroscienceDYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.
NeurologyQuality of life outcomes after globus pallidus internus deep brain stimulation in idiopathic or inherited isolated dystonia: a meta-analysis.
Journal of neurology, neurosurgery, and psychiatryAssociation of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.
Journal of molecular neuroscience : MNPhenomenology and Management of Subthalamic Stimulation-Induced Dyskinesia in Patients With Isolated Dystonia.
Movement disorders clinical practiceMinimal Clinically Important Differences for Burke-Fahn-Marsden Dystonia Rating Scale and 36-Item Short-Form Health Survey.
Movement disorders : official journal of the Movement Disorder SocietySecondary atlantoaxial subluxation in isolated cervical dystonia-a case report.
AME case reportsModels of dystonia: an update.
Journal of neuroscience methodsSubthalamic Nucleus Stimulation in Pediatric Isolated Dystonia: A 10-Year Follow-up.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesCellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia.
Neurobiology of diseaseLong term perceptions of illness and self after Deep Brain Stimulation in pediatric dystonia: A narrative research.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyPallidal lead placement in dystonia: leads of non-responders are contained within an anatomical range defined by responders.
Journal of neurologyLong-term effects of bilateral pallidal deep brain stimulation in dystonia: a follow-up between 8 and 16 years.
Journal of neurologyCOL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature.
Brain & developmentFlanker Task Performance in Isolated Dystonia (Blepharospasm): A Focus on Sequential Effects.
Brain sciencesA case of late-onset dopa-responsive isolated dystonia secondary to a novel tyrosine hydroxylase gene variant.
Clinical parkinsonism & related disordersRisk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.
Journal of neurology, neurosurgery, and psychiatryQuality of life outcomes after deep brain stimulation in dystonia: A systematic review.
Parkinsonism & related disordersImpaired dopamine- and adenosine-mediated signaling and plasticity in a novel rodent model for DYT25 dystonia.
Neurobiology of diseasePerturbed Ca2+-dependent signaling of DYT2 hippocalcin mutant as mechanism of autosomal recessive dystonia.
Neurobiology of diseaseClinical Features and Treatment in the Spectrum of Paroxysmal Dyskinesias: An Observational Study in South-West Castilla y Leon, Spain.
Neurology research internationalMeta-Regression Analysis of the Long-Term Effects of Pallidal and Subthalamic Deep Brain Stimulation for the Treatment of Isolated Dystonia.
World neurosurgeryImportance of the initial response to GPi deep brain stimulation in dystonia: A nine year quality of life study.
Parkinsonism & related disordersGnal haploinsufficiency causes genomic instability and increased sensitivity to haloperidol.
Experimental neurologyDeep brain stimulation in post-traumatic dystonia: A case series study.
CNS neuroscience & therapeuticsDelineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia!
Movement disorders : official journal of the Movement Disorder SocietyPharmacological management of abnormal tone and movement in cerebral palsy.
Archives of disease in childhoodNeuropathology of Dystonia.
Tremor and other hyperkinetic movements (New York, N.Y.)Deep brain stimulation of the globus pallidus internus versus the subthalamic nucleus in isolated dystonia.
Journal of neurosurgeryTwelve-year Follow-up of A Large Italian Family with Atypical Phenotypes of DYT1-dystonia.
Movement disorders clinical practiceHip displacement in children with cerebral palsy in Scotland: a total population study.
Journal of children's orthopaedicsDeep Brain Stimulation in Isolated Dystonia With a GNAL Mutation.
Movement disorders : official journal of the Movement Disorder SocietyNeuroimaging Applications in Dystonia.
International review of neurobiologyThe prevalence of adult-onset isolated dystonia in Finland 2007-2016.
PloS onePredictors of alcohol responsiveness in dystonia.
NeurologyGeneration and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers.
Stem cell researchField synopsis and systematic meta-analyses of genetic association studies in isolated dystonia.
Parkinsonism & related disordersFrameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results.
Journal of neurosurgery. PediatricsPediatric Deep Brain Stimulation Using Awake Recording and Stimulation for Target Selection in an Inpatient Neuromodulation Monitoring Unit.
Brain sciencesSurgical treatment of dystonia.
Expert review of neurotherapeuticsPallidal Deep-Brain Stimulation Disrupts Pallidal Beta Oscillations and Coherence with Primary Motor Cortex in Parkinson's Disease.
The Journal of neuroscience : the official journal of the Society for NeuroscienceDiagnosis and treatment of pediatric onset isolated dystonia.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyCortical gamma oscillations in isolated dystonia.
Parkinsonism & related disordersInherited dystonias: clinical features and molecular pathways.
Handbook of clinical neurologyChronic deep brain stimulation normalizes scalp EEG activity in isolated dystonia.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyThe prevalence of PRKRA mutations in idiopathic dystonia.
Parkinsonism & related disordersSpinocerebellar ataxia type 3 presenting with writer's cramp without ataxia.
The International journal of neuroscienceDNA damage and neurodegenerative phenotypes in aged Ciz1 null mice.
Neurobiology of agingThe direct basal ganglia pathway is hyperfunctional in focal dystonia.
Brain : a journal of neurologyMicrostructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia).
Parkinsonism & related disordersIntractable Blepharospasm Treated with Bilateral Pallidal Deep Brain Stimulation.
Tremor and other hyperkinetic movements (New York, N.Y.)Tremor in Dystonia: A Cross-sectional Study from India.
Movement disorders clinical practicePallidal DBS for dystonia in the age of personalized medicine.
Parkinsonism & related disordersMovement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum.
Movement disorders : official journal of the Movement Disorder SocietyDeep Brain Stimulation for the Dystonias: Evidence, Knowledge Gaps, and Practical Considerations.
Movement disorders clinical practiceDeletion variant rs35153737 in TOR1A is associated with isolated dystonia in a Southwestern Chinese Population.
Neuroscience lettersCauses of failure of pallidal deep brain stimulation in cases with pre-operative diagnosis of isolated dystonia.
Parkinsonism & related disordersAssociações
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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.
- Clinical Presentation and Evolution of Isolated Focal and Segmental Dystonia in Adults - 20 Years' Experience from a Botulinum Toxin Clinic.
- Is segmental/multifocal onset a distinct presentation of idiopathic adult-onset dystonia?
- The Pain in Dystonia Scale (PIDS)-Validation in Craniofacial and Upper Limb Dystonia.
- DYT-AOPEP: A case series from India expanding the clinical and genetic spectrum.
- Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.Movement disorders : official journal of the Movement Disorder Society· 2026· PMID 41200738mais citado
- Clinical efficacy of neuromodulation in isolated dystonia: A systematic review of motor function improvement.
- Reply: "Segmental vs. Multifocal: The 2025 Dystonia Classification Is Helpful".
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:156159(Orphanet)
- MONDO:0015494(MONDO)
- Distonia e Espasticidade(PCDT · Ministério da Saúde)
- GARD:19985(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q906492(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
