Distúrbio neurológico raro do movimento caracterizado por contrações musculares sustentadas de uma única região do corpo, geralmente produzindo movimentos de torção e repetitivos ou posturas ou posições anormais.
Introdução
O que você precisa saber de cara
Distúrbio neurológico raro do movimento caracterizado por contrações musculares sustentadas de uma única região do corpo, geralmente produzindo movimentos de torção e repetitivos ou posturas ou posições anormais.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 29 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 78 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
7 genes identificados com associação a esta condição. Padrão de herança: 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.
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.
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.
May regulate the subcellular localization of CIP/WAF1
Nucleus
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.
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.
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.
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)
241 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
45 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 focal, segmentar ou multifocal
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
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
46 ensaios clínicos encontrados, 3 ativos.
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Seminars in musculoskeletal radiology[Very accelerated partial breast irradiation (VAPBI) with high-dose-rate interstitial brachytherapy following breast- conserving surgery of low-risk breast cancer patients].
Magyar onkologiaBilateral Sharpness-Aware Minimization for Flatter Minima.
IEEE transactions on neural networks and learning systemsT-Rex2++: Towards Generic Object Perception Via Text-Visual Prompt Synergy.
IEEE transactions on pattern analysis and machine intelligenceNRSeg: Noise-Resilient Learning for BEV Semantic Segmentation via Driving World Models.
IEEE transactions on image processing : a publication of the IEEE Signal Processing SocietyTumor morphology on CT radiomics is largely driven by the local anatomical environment, not the primary tumor type.
European radiology experimentalAortic Root Thrombosis With Multivessel Coronary Embolism Following Left Ventricular Assist Device Implantation.
JACC. Case reportsIoT-based Stomach abnormality detection via hybrid MDCNN-Bi-LSTM architecture with statistical and texture features.
Informatics for health & social careIonic-content-driven restructuring of spirobisindane ionene networks: implications for mechanics, self-healing, and gas transport.
Soft matterMicrophase-Separated Elastomers Enable Synergistic Dispersion and Coalescence Control in Conductive Pastes for Fine Printing.
Advanced materials (Deerfield Beach, Fla.)Short Segments of Electrospun Nanofibers Loaded with Curcumin Can Protect the Cells in Spheroids against Oxidative Stress.
ACS applied nano materialsCatheter-Based Focal Hypothermia With Endovascular Reperfusion in Acute Anterior Circulation Large Artery Occlusion Stroke (CHILL-ART): A Randomized Controlled Trial Protocol.
Stroke (Hoboken, N.J.)Utilizing 3D Slicer for pulmonary bronchovascular anatomy reconstruction: a practical workflow and case examples.
Journal of thoracic diseaseDeveloping a segmentation cascade deep learning network based on automated prompts.
Quantitative imaging in medicine and surgeryAutomated segmentation and quantitative measurement of cervical nerves in ultrasound images using an SZJ-SEG-based deep learning framework.
Quantitative imaging in medicine and surgeryThe life-saving role of intraluminal clot tamponade in contained rupture of abdominal aortic aneurysm following low-impact trauma: a case report.
International journal of surgery case reportsThe Topographical, Sensory, and Temporal Characteristics of Pain in Parkinson's Disease: A Cross-Sectional Survey.
Pain practice : the official journal of World Institute of PainFifteen-minute consultation: Integrated child health: Part 1 - Why integrated care matters.
Archives of disease in childhood. Education and practice editionAnatomical Coordinates for Adductor Canal Block: Targeting Saphenous Nerve and Nerve to Vastus Medialis.
Acta anaesthesiologica ScandinavicaVentral Spinal Cord Displacement as a Cause of Thoracic Myelopathy: A Case Series of Nine Patients with Special Consideration of Magnetic Resonance Imaging Findings.
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinPatch-level colorimetric quantification of coral bleaching for marine pollution monitoring using standardized CoralWatch references.
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Ophthalmology and therapyPrecision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant.
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Clinical and translational gastroenterologyHybrid boat-shaped and tubularized bovine patch conduit: A salvage solution for arteriovenous fistula creation.
The journal of vascular accessTransforaminal endoscopic discectomy with temporary percutaneous pedicle screw fixation as a fusion-sparing approach for giant recurrent L4/5 disc herniation and iatrogenic pars fracture in a young female: a case report.
Journal of spine surgery (Hong Kong)Why Does DNA Methylation Accumulate at CpG Loci?: Sequential Analysis of Cdkn2a/p16Ink4a Gene Methylation in a Rat Renal Tumor Model.
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European journal of radiology openA hybrid deep boosting framework with adaptive label stabilization for SEM-based porosity estimation in fly-ash cement mortar.
Frontiers in artificial intelligenceSeat Belt Aorta in a Paediatric Patient: Conservative Management with Eight Year Follow Up to Adulthood.
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BMJ neurology openSlipping Through the Chasm of Multicenter Hand-offs-Rare Incidence of Nintedanib Induced Renal Failure: Case Report.
Journal of community hospital internal medicine perspectivesExplaining the unexplained admixture mapping signals via rare variants: the HCHS/SOL.
bioRxiv : the preprint server for biologyThe immune anatomy of the small intestine facilitates regulatory responses.
Frontiers in immunologyEfficacy of Percutaneous Kyphoplasty in the Treatment of Kümmell's Disease and Osteoporotic Vertebral Compression Fractures: A Clinical Comparative Study.
Orthopaedic surgeryWEViT: weight-entangled vision transformers with class-specific attention for weakly supervised semantic segmentation.
Neural networks : the official journal of the International Neural Network SocietyMRI Manifestations of Facial Paralysis Following Retroauricular Hyaluronic Acid Injection.
Aesthetic plastic surgeryLate onset nipple recurrence of borderline phyllodes after nipple-sparing mastectomy.
BMJ case reportsEmergence of helical structures in weakly confined, semiflexible, charged polymers.
Journal of physics. Condensed matter : an Institute of Physics journalAssociações
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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.
- Dysfunction of α2δ4 leads to photoreceptor degeneration through disrupted synaptic mitochondria and calcium crosstalk.
- Genome-wide comparative analysis of the HSP90 gene family in four Ipomoea species and functional insights into the potentiality of IbHSP90-2 in low temperature tolerance.
- Genome-wide identification of the HSF gene family in Chinese chestnut and functional characterization of CmHSF4 under temperature stress.
- MSCMH-Net: A multi-scale channel-mixing hybrid network for whole-brain segmentation.
- A Remarkable Tale: Increased Retinal Fluorescence Following Application of Permanent Marker Ink to Mouse Tails.
- Genome-wide identification of the FAD gene family in Fragaria nilgerrensis reveals distinct roles of two FnFAD3 genes in peach-like aroma formation.
- Timing of surgery and predictors of canal reduction after short-segment fixation for thoracolumbar burst fractures.
- TL-TransUNet: An Improved Lightweight Semantic Segmentation Model of Macular Edema Lesions in Retinal OCT Images.
- Dietary energy level modulates cecal microbiota to influence amino acid composition of local chicken meat.
- O-to-H Flap Reconstruction of a Central Forehead Defect Following Basosquamous Carcinoma Excision: A Case Report and Literature Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1866(Orphanet)
- MONDO:0015990(MONDO)
- Distonia e Espasticidade(PCDT · Ministério da Saúde)
- GARD:18749(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1428695(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
