Introdução
O que você precisa saber de cara
Síndrome rara com tremor essencial progressivo, distúrbios da fala e comportamentais, dismorfia facial, deficiência intelectual e atraso no desenvolvimento. Herança autossômica recessiva associada ao gene SLC6A17.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 21 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 39 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Synaptic vesicle transporter with apparent selectivity for neutral amino acids. The transport is sodium-coupled but chloride-independent, likely driven by the proton electrochemical gradient generated by vacuolar H(+)-ATPase in an overall electrogenic mechanism. May contribute to the synaptic uptake of neurotransmitter precursors in a process coupled in part to vesicle exocytosis
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membranePostsynapsePresynapse
Intellectual developmental disorder, autosomal recessive 48
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems.
Variantes genéticas (ClinVar)
20 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 23 variantes classificadas pelo ClinVar.
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 — Síndrome de tremor essencial progressivo-perturbação da linguagem-dismorfia facial-perturbação do desenvolvimento intelectual-perturbação comportamental
Centros de Referência SUS
13 centros habilitados pelo SUS para Síndrome de tremor essencial progressivo-perturbação da linguagem-dismorfia facial-perturbação do desenvolvimento intelectual-perturbação comportamental
Centros para Síndrome de tremor essencial progressivo-perturbação da linguagem-dismorfia facial-perturbação do desenvolvimento intelectual-perturbação comportamental
Detalhes dos centros
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Baseline IPSS-M vs Pretransplant Risk Downstaging as Prognostic Determinants in MDS Undergoing Allogeneic Transplantation.
Risk stratification in myelodysplastic syndromes (MDS) is essential for clinical decision-making, yet the optimal approach to estimate risk for patients undergoing allogeneic stem cell transplantation (alloHSCT) remains uncertain. Whether dynamic changes in risk between diagnosis and post-hypomethylating agent (HMA) therapy improve prognostic accuracy beyond baseline evaluation has not been established. We retrospectively studied 176 HMA-treated patients who underwent alloHSCT, applying the Molecular International Prognostic Scoring System (IPSS-M) at both diagnosis and pre-transplant. The primary endpoint was 4-year progression-free survival (PFS). Overall, dynamic assessment did not improve prognostic performance compared with baseline evaluation. For 4-year PFS, C-indices at diagnosis versus at alloHSCT were 0.6406 versus 0.6377 (p=0.82). Patients with worsening risk after HMA experienced notably inferior outcomes, while those with apparent improvement fared no better than patients with unchanged risk (4-year PFS: 50%, 50%, and 31% for improved, unchanged, and worsening risk, respectively). Apparent IPSS-M improvement before alloHSCT yielded no gains in survival and no reduction in relapse relative to unchanged risk, a pattern consistent among TP53 wild-type patients. Moreover, clearance of TP53 mutations following HMA therapy did not translate into improved post-transplant outcomes. In summary, dynamic reassessment with IPSS-M prior to alloHSCT offers no prognostic advantage over baseline evaluation at diagnosis in HMA-treated MDS patients. Accordingly, risk reduction should not be regarded as a therapeutic goal or trial endpoint, whereas risk progression constitutes an adverse marker that may inform incorporation of post-transplant maintenance strategies or intensified conditioning regimens to improve survival.
Intrapartum recognition and management of fetal inflammation.
Intra-amniotic inflammation and infection are common intrapartum conditions at term and represent a major cause of fetal and neonatal morbidity independent of hypoxia. These conditions trigger the fetal inflammatory response syndrome (FIRS), characterized by systemic cytokine activation, cardiovascular dysfunction, impaired thermoregulation, and neuroinflammation, which substantially increase the risk of early-onset neonatal sepsis, encephalopathy, and long-term neurological injury. The coexistence of inflammation and intrapartum hypoxic stress markedly amplifies fetal brain vulnerability. During labor, fetal inflammation is associated with specific cardiotocographic patterns that may precede metabolic acidemia. Early signs include unexplained fetal tachycardia or a progressive rise in baseline heart rate, often without preceding decelerations. With progression, loss of accelerations, abnormalities of baseline variability-including increased, reduced, or atypical sinusoidal patterns-and absence of sleep-wake cycling become evident. Decelerations may develop secondary to inflammation-related placental dysfunction, altered umbilical blood flow, and abnormal uterine contractility. Prompt recognition of these intrapartum features allows early intervention through maternal temperature control, antibiotic therapy, and timely delivery when indicated. Early identification and management of fetal inflammation are essential to mitigate inflammation-mediated neonatal morbidity and adverse neurological outcomes. • Intra-amniotic inflammation and infection during labor are common at term and are major contributors to fetal and neonatal morbidity. • Traditional intrapartum cardiotocography (CTG) interpretation is primarily focused on detecting hypoxia-related fetal compromise and may fail to recognize non-hypoxic inflammatory insults. • Fetal exposure to intra-amniotic inflammation during labor can be identified antenatally through specific intrapartum cardiotocographic patterns, even in the absence of maternal clinical signs of infection. • The recognition of CTG features suggestive of fetal inflammation provides an opportunity for earlier intrapartum intervention, with potential to reduce neonatal sepsis, encephalopathy, and long-term neurological injury.
The RNA exosome maintains cellular RNA homeostasis by controlling transcript abundance in the brain.
Intracellular ribonucleases (RNases) are essential for maintaining accurate RNA levels. Inherited mutations in genes encoding ubiquitous RNases are associated with human diseases, primarily affecting the nervous system. Recessive mutations in genes encoding the evolutionarily conserved RNA exosome, an RNase complex, cause syndromic neurodevelopmental disorders, such as pontocerebellar hypoplasia type 1b (PCH1b), characterized by progressive neurodegeneration. Here, we establish a CRISPR-Cas9-engineered Drosophila model of PCH1b to investigate the cell-type-specific post-transcriptional regulatory functions of the RNA exosome complex in vivo. Pathogenic variants in Rrp40, a subunit of the complex, disrupt RNA exosome activity, leading to widespread transcriptomic dysregulation in brain-enriched cell populations, including defective rRNA processing. These molecular defects coincide with progressive neurodegeneration and behavioral impairments that track with allele severity. Our findings provide a cell-type-resolved view of RNA exosome function in a fully developed animal brain and underscore the critical role of RNA surveillance in safeguarding transcriptome homeostasis and neuronal integrity.
Utility of Locus Coeruleus Signal Intensity on High-resolution T1-weighted MR Imaging with Magnetization Transfer for Differentiating Parkinson's Disease from Atypical Parkinsonism.
This study aimed to evaluate the diagnostic utility of locus coeruleus (LC) signal intensity on high-resolution T1-weighted imaging with magnetization transfer (T1WI with MT) for distinguishing Parkinson's disease (PD) from a broad range of atypical parkinsonism (AP) subtypes, including early-stage cases. We retrospectively analyzed T1WI with MT data from 214 participants, including patients with PD (n = 125), corticobasal syndrome (CBS, n = 12), multiple system atrophy (MSA, n = 16), progressive supranuclear palsy (PSP, n = 19), essential tremor (n = 17), vascular parkinsonism (n = 4), drug-induced parkinsonism (DIP, n = 7), and healthy subjects (HS, n = 14). Circular ROIs were placed on the LC and substantia nigra pars compacta to calculate contrast ratios (CRs). Conventional MRI findings of AP, focusing on characteristic regional atrophy patterns, were also evaluated. Diagnostic performance was assessed using receiver operating characteristic (ROC) analysis. A subanalysis was performed for early-stage cases (within 2 years of onset). Three independent neuroradiologists evaluated T1WI with MT, and interobserver agreement was assessed using intraclass correlation coefficients (ICC). The LC-CR was significantly lower in PD than in HS (P < 0.01) and all AP subtypes except DIP (P = 0.37). ROC analysis revealed that LC-CR had the highest diagnostic accuracy for differentiating PD from AP (area under the curve [AUC] = 0.83, sensitivity = 67%, specificity = 90%). In early-stage cases, LC-CR maintained high specificity (98%) with an AUC of 0.80. The diagnostic utility of LC-CR was comparable or superior to conventional MRI findings in distinguishing PD from CBS, MSA, and PSP. Interobserver agreement for LC-CR measurements was good, with an ICC of 0.87 (95% confidence interval: 0.85-0.89). LC-CR measured on T1WI with MT serves as a reliable imaging biomarker for differentiating PD from various forms of AP, even in early disease stages.
The 9th International RASopathies Symposium.
The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. Given the heterogeneous clinical presentations of these disorders that involve abnormalities across multiple organ systems, multidisciplinary clinical management and progress in scientific research are essential for optimal patient diagnosis and care. The 9th International RASopathies Symposium, a biennial meeting, was organized by the patient advocacy group RASopathies Network and showcased recent discoveries, case studies, and advances in preclinical research. Participants, who included scientists, clinicians, industry representatives, patients, and family advocates, explored knowledge gaps, innovative clinical approaches, and lived experiences of individuals with a RASopathy. Sessions centered around organ systems were introduced with a patient perspective to highlight the burden of disease, continued with presentations from established and early-career investigators. Overall, the RASopathies Symposia serve as a catalyst for sustained community collaboration focused on enhancing patient health and accelerating the translation of discoveries into effective treatments.
Publicações recentes
Mast cell mediators in hereditary angioedema.
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
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The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
📚 EuropePMCmostrando 199
The 9th International RASopathies Symposium.
American journal of medical genetics. Part AA call for action: Closing the evidence gap in management of stimulant-induced psychosis.
Addiction (Abingdon, England)Appendico-Ileal Knotting (Appendiceal Tourniquet Syndrome): A Systematic Review and Clinicopathological Classification.
CureusAssociations of sociodemographic factors and lifestyle behaviors with the risk of cardiometabolic disease: a population-based study from the European health interview survey in Hungary.
BMC public healthFrom the Optic Neuritis Treatment Trial to Antibody-Mediated Optic Neuritis: Four Decades of Progress and Unanswered Questions.
BiomedicinesGroup A β-hemolytic streptococcus causing purpura fulminans: two case reports.
Frontiers in immunologySevere Manifestation of Hyperparathyroidism With Sagliker Syndrome: A Case Report.
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International journal of cardiologyReal-world evaluation of Armstrong's criteria in corticobasal degeneration: Phenotypic overlap and diagnostic challenges.
Parkinsonism & related disordersCurrent Neuroimaging Modalities to Distinguish Parkinson's Disease from its Mimics: Imaging Features and Implications for Clinical Practice.
The neuroradiology journalPerformance of machine learning algorithms in diffusion tensor imaging of movement disorders: an exploratory meta-analysis.
Biomedical engineering onlineEarly detection and risk stratification in autoimmune-related interstitial lung disease: a state-of-the-art review.
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Arquivos brasileiros de cardiologiaPheochromocytoma and Extra-Adrenal Paragangliomas: An Update in Diagnostics and Clinical Implications.
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GenesBarriers, Limitations, and Experiences with Clinical Trials-Treatment in Rare Diseases with Prader-Willi Syndrome as an Example.
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Cell reportsTopical steroid withdrawal syndrome: developing diagnostic criteria through a modified Delphi method.
The British journal of dermatologyApplications of Artificial Intelligence as a Prognostic Tool in the Management of Acute Aortic Syndrome and Aneurysm: A Comprehensive Review.
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BMC neurologyRecent advances in model systems for interrogating diseases of brain aging and associated dementia: Toward human-relevant endophenotypes.
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European journal of preventive cardiologyProgressive multifocal diffusion-weighted imaging hyperintensities in sporadic Creutzfeldt-Jakob disease with positive cerebrospinal fluid real-time quaking-induced conversion: a case report.
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Phytomedicine : international journal of phytotherapy and phytopharmacologyAcute Fatty Liver in Pregnancy: Literature Review.
CureusBridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review.
GenesEngaging Chinese and Korean American communities in dementia research: A journey of inclusivity and partnership.
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Annals of medicineAltering rRNA 2'O-methylation pattern during neuronal differentiation is regulated by FMRP.
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Sub-cellular biochemistryChristmas tree pattern ileal atresia with intestinal malrotation in a 15-day-old infant: A rare dual congenital anomaly in the pediatric population - A case report.
International journal of surgery case reportsCorrelation of Glycemic Status with Angiographic Severity of Coronary Artery Disease in Acute Coronary Syndrome.
The Journal of the Association of Physicians of IndiaHow to use an extensive Flammer syndrome phenotyping for a holistic protection against health-to-disease transition - facts and practical recommendations.
The EPMA journalDevelopmental neurotoxicity of organophosphate flame retardants (OPFRs): risks to human health and ecosystems.
Archives of toxicology[Expert consensus on the diagnosis and treatment of sleep-disordered breathing related to neuromuscular diseases].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesRole of Toll-Like Receptors in Myeloid Neoplasms: Focuses on the Molecular Mechanisms and Clinical Impact on Myelodysplastic Syndromes, Acute Myeloid Leukemia, and Chronic Myeloid Leukemia.
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International urogynecology journalMalignant catatonia in an adolescent with pogo transposable element derived with zinc finger domain (POGZ) gene mutation: case report.
BJPsych openPapillary endolymphatic sac tumor: Case report with clinical study and therapeutic management.
International journal of surgery case reportsShrinking Lung Syndrome as an Early Manifestation of Systemic Lupus Erythematosus: A Case Report With Literature Review.
Respirology case reportsCase Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants in MECP2 (p. R133C) and GABBR1.
Frontiers in pediatricsEchoes of change: lung ultrasound revolutionizing neonatal and pediatric respiratory care.
Pediatric radiologyLesional Markers and Precursors of Melanoma.
Dermatologic clinicsRole of Neuroimaging in Cancer-Treatment Neurotoxicity.
AJR. American journal of roentgenologySeroprevalence of Immunoglobulin G against measles and rubella over a 12-year period (2009-2021) in Kilifi, Kenya and the impact of the Measles-Rubella (MR) vaccine campaign of 2016.
VaccineReduced locomotor activity in an ovarian-intact rat model of PCOS induced by mild exposure to dihydrotestosterone.
The Journal of endocrinologyCultural and Molecular Factors Predisposed to Non-Alcoholic Fatty Liver Disease and Type 2 Diabetes Mellitus.
NutrientsMetabolic dysfunction-associated steatotic liver disease: A story of muscle and mass.
World journal of gastroenterologyChallenging the STEMI paradigm: The case of total coronary occlusion in non-STEMI presentations.
The American journal of emergency medicineMetabolic Syndrome Evolution and Cardio-Kidney-Metabolic Multimorbidity: Implications for Targeted Prevention.
JACC. AdvancesSports-related Hip Injuries.
Seminars in musculoskeletal radiologyComprehending toll-like receptors: pivotal element in the pathogenesis of sepsis and its complications.
Frontiers in immunologyComputational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis.
BMC genomic dataGlobal, regional, and national impact of Down syndrome on child and adolescent mortality from 1980 to 2021, with projections to 2050: a cross-sectional study.
Frontiers in public healthKnowledge, attitude, and practice of neurologists toward primary progressive aphasia in Indonesia.
Journal of Alzheimer's disease : JADDiagnostic Musculoskeletal Ultrasound in the Evaluation of the Median Nerve.
International journal of sports physical therapyUpregulation of NR2A in Glutamatergic VTA Neurons Contributes to Chronic Visceral Pain in Male Mice.
Neuroscience bulletinCorrelation Between COVID-19 Recovery, Executive Function Decline, and Emotional State.
Psychology research and behavior managementMultidisciplinary collaborative guidance on the assessment and treatment of patients with Long COVID: A compendium statement.
PM & R : the journal of injury, function, and rehabilitationCharacterization of Indolent Chronic Myelomonocytic Leukemia Phenotypes and Dynamic Features of Disease Progression.
Clinical lymphoma, myeloma & leukemiaBilateral Hearing Loss in Primary Ciliary Dyskinesia: A Study of Conductive and Sensorineural Mechanisms from Pediatric and Adult Cases.
The journal of international advanced otologyFollicle-stimulating hormone promotes EndMT in endothelial cells by upregulating ALKBH5 expression.
Cellular & molecular biology lettersIntranasal NAP (Davunetide): Neuroprotection and circadian rhythmicity.
Advanced drug delivery reviewsCerebrospinal fluid and blood neurofilament light chain in Parkinson's disease and atypical parkinsonian syndromes: a systematic review and Bayesian network meta-analysis.
Journal of neurologyGenetic factors and management strategies in aortic health: a literature review of inherited aortopathy.
Annals of medicine and surgery (2012)Modifiable risk factors associated with the risk of developing Parkinson's disease: a critical review.
Arquivos de neuro-psiquiatriaDysregulation of MicroRNA Biogenesis Machinery in Nervous System Diseases.
The European journal of neuroscienceUnraveling the Roles of UBE3A in Neurodevelopment and Neurodegeneration.
International journal of molecular sciencesConcurrent validity in language and motor domains on the Vineland-3 and Mullen Scales of Early Learning in young children with Down syndrome.
Research in developmental disabilitiesDeciphering the molecular mechanism of post-acute sequelae of COVID-19 through comorbidity network analysis.
Chaos (Woodbury, N.Y.)Advanced Imaging and Occupational History in the Diagnosis of Bird Fancier's Lung: A Case Report.
CureusIgG4-RD-Associated Mikulicz Syndrome Without Classic Systemic Involvement-A Case Report.
Journal of clinical medicinePredicting survival rate by plasma biomarkers and clinical variables in syndromes associated with frontotemporal lobar degeneration.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationPediatric Granulomatosis With Polyangiitis: A Case Report Compared to a Case Review in the Last 10 Years.
CureusRevisiting the boundaries of different altered accents profiles.
Cortex; a journal devoted to the study of the nervous system and behaviorElucidating the Role of the T Cell Receptor Repertoire in Myelodysplastic Neoplasms and Acute Myeloid Leukemia.
Diseases (Basel, Switzerland)Roadmap to advance therapeutics for SYNGAP1-related disorder: a patient organization perspective from SynGAP Research Fund.
Therapeutic advances in rare diseaseAn Uncommon Presentation of Guillain-Barré Syndrome With Lhermitte Sign.
CureusThe importance of peripheral populations in the face of novel environmental change.
Proceedings. Biological sciencesTHE FAM53C/DYRK1A axis regulates the G1/S transition of the cell cycle.
bioRxiv : the preprint server for biologySevere Myocardial Bridging-Induced Total Occlusion of the Left Anterior Descending (LAD) Artery Mimicking Wellens' Syndrome: A Case Report.
CureusPain chronification risk assessment: advanced phenotyping and scoring for prediction and treatments tailored to individualized patient profile.
The EPMA journalUnveiling the intricacies of irritable bowel syndrome.
World journal of gastroenterologyApplication of Forced Oscillation Technique in Assessing Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
Advances in respiratory medicineMultiple Keratoacanthomas Associated with Genetic Syndromes: Narrative Review and Proposal of a Diagnostic Algorithm.
American journal of clinical dermatologyEfficacy of Nigella sativa seed oil against psychophysical stress induced irritable bowel syndrome and anxiety-like symptoms in Wistar rats.
PsychopharmacologyIntersection of Sleep Disorders and Parkinson Disease: Unveiling the Bidirectional Relationship.
Movement disorders clinical practiceWDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females.
Journal of medical geneticsThe Current and Novel Imaging Modalities for Ocular Vasculitis in Behcet's Disease: A Review.
CureusThe epigenetic modification of DNA methylation in neurological diseases.
Frontiers in immunologyThe role of cytokines from salivary gland epithelial cells in the immunopathology of Sjögren's syndrome.
Frontiers in immunologyDementia: Common Syndromes and Modifiable Risk and Protective Factors.
Neurologic clinicsEpg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients.
AutophagyInvolvement of extracellular vesicle microRNA clusters in developing healthy and Rett syndrome brain organoids.
Cellular and molecular life sciences : CMLSSerotonin syndrome caused by escitalopram in Parkinson's disease psychosis: a case report.
BMC geriatricsAssociation between Inflammation and New-Onset Atrial Fibrillation in Acute Coronary Syndromes.
Journal of clinical medicineRett Syndrome: The Emerging Landscape of Treatment Strategies.
CNS drugsClinical characteristics of Japanese patients with corticobasal degeneration.
Journal of the neurological sciencesBody fluid multiomics in 3PM-guided ischemic stroke management: health risk assessment, targeted protection against health-to-disease transition, and cost-effective personalized approach are envisaged.
The EPMA journalPredictors of Care Home Admission and Survival Rate in Patients With Syndromes Associated With Frontotemporal Lobar Degeneration in Europe.
NeurologyProgress towards understanding risk factor mechanisms in the development of autism spectrum disorders.
Biochemical Society transactionsDynamic patterns of COVID stress syndrome among university students during an outbreak: a time-series network analysis.
Psychology & healthBehavioral and histological analyses of the mouse Bassoon p.P3882A mutation corresponding to the human BSN p.P3866A mutation.
Frontiers in neuroscienceMaternal and Newborn Outcomes of SARS-CoV-2/COVID-19 and Pregnancy: Parallels and Contrasts with Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome.
Medical research archivesPatterns of brain volume and metabolism predict clinical features in the progressive supranuclear palsy spectrum.
Brain communicationsPrimer on fibroblast growth factor 7 (FGF 7).
Differentiation; research in biological diversityThe Importance of Long-term Partner Observation in Cognitive Evaluation: A Very Early Creutzfeldt-Jakob Disease in a Patient with Mild Cognitive Impairment.
Current Alzheimer researchChallenges in diagnosis of calcaneal fractures: an examination using the WIDI SIM platform.
Emergency radiologyThe Assessment of the Nutritional Status among the Young-Old and Old-Old Population with Alimentary-Dependent Diseases.
Medicina (Kaunas, Lithuania)Progressive supranuclear palsy: Neuropathology, clinical presentation, diagnostic challenges, management, and emerging therapies.
Disease-a-month : DMHemodynamics During Development and Postnatal Life.
Advances in experimental medicine and biologyFetal hemoglobin induction in azacytidine responders enlightens methylation patterns related to blast clearance in higher-risk MDS and CMML.
Clinical epigeneticsDiabetic cheiroarthropathy in uncontrolled type 2 diabetes with positive anti-nuclear antibodies: a case report from Sudan.
Annals of medicine and surgery (2012)The Elevated Inflammatory Status of Neutrophils Is Related to In-Hospital Complications in Patients with Acute Coronary Syndrome and Has Important Prognosis Value for Diabetic Patients.
International journal of molecular sciencesFrench guidelines for the diagnosis and management of Tourette syndrome.
Revue neurologiqueHuman immunodeficiency virus-associated dementia complex with positive 14-3-3 protein in cerebrospinal fluid: A case report.
World journal of clinical cases[Cortico-basal syndrome and cortico-basal degeneration: From the clinical diagnosis to the lesional substrate for an adapted care].
Geriatrie et psychologie neuropsychiatrie du vieillissementBPI-GNN: Interpretable brain network-based psychiatric diagnosis and subtyping.
NeuroImageThe bidirectional relationship of depression and disturbances in B cell homeostasis: Double trouble.
Progress in neuro-psychopharmacology & biological psychiatryClinical characteristics of patients with connective tissue disease-related interstitial lung disease: a retrospective analysis.
Clinical rheumatologyRole of Cognitive Frailty in Older Adults With Cardiovascular Disease.
Journal of the American Heart AssociationPsychopharmacology of smoking cessation medications: focus on patients with mental health disorders.
International review of psychiatry (Abingdon, England)Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males.
Journal of molecular neuroscience : MNExpanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.
Neurology. GeneticsClinical evaluation of a patient participation assessment system for upper extremity rehabilitation exercises.
Medical & biological engineering & computingIgG4-related lymphadenopathy.
Seminars in diagnostic pathologyTargeting Key Inflammatory Mechanisms Underlying Heart Failure: A Comprehensive Review.
International journal of molecular sciencesCharacteristics of patients with initial diagnosis of systemic lupus erythematosus in emergency department and their outcomes: a retrospective single-center study.
Clinical rheumatologyIdentification of key gene expression associated with quality of life after recovery from COVID-19.
Medical & biological engineering & computingFXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration.
Annals of neurologyHistone methylation mediated by NSD1 is required for the establishment and maintenance of neuronal identities.
Cell reportsNavigating the transition of care in patients with inborn errors of immunity: a single-center's descriptive experience.
Frontiers in immunologyClinical correlates of "pure" essential tremor: the TITAN study.
Frontiers in neurologyNeurological Insights into Sleep Disorders in Parkinson's Disease.
Brain sciencesIdentification of Potential Prognosticators for Sepsis through Expression Analysis of Transcriptomic Data from Sepsis Survivors and Nonsurvivors.
Acta medica PhilippinaDietary Implications of the Bidirectional Relationship between the Gut Microflora and Inflammatory Diseases with Special Emphasis on Irritable Bowel Disease: Current and Future Perspective.
NutrientsUndetectable=Untransmittable=Universal Access (U=U=U): transforming a foundational, community-led HIV/AIDS health informational advocacy campaign into a global HIV/AIDS health equity strategy and policy priority.
Sexual healthOrchestrated regulation of immune inflammation with cell therapy in pediatric acute liver injury.
Frontiers in immunologyGeneration and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology.
CellsMetabolic alterations upon SARS-CoV-2 infection and potential therapeutic targets against coronavirus infection.
Signal transduction and targeted therapyLongitudinal Investigation of Auditory Dynamic Range Deficits in Early Psychosis and its Relationship to Negative Symptoms.
Schizophrenia bulletinStable Gastric Pentadecapeptide BPC 157 May Recover Brain-Gut Axis and Gut-Brain Axis Function.
Pharmaceuticals (Basel, Switzerland)Down syndrome and Alzheimer's disease: A scoping review of functional performance and fall risk.
Alzheimer's & dementia (New York, N. Y.)Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis.
Audiology & neuro-otologyMembrane excitability of nucleus accumbens neurons gates the incubation of cocaine craving.
Neuropsychopharmacology : official publication of the American College of NeuropsychopharmacologyTemporal pattern of humoral immune response in mild cases of COVID-19.
World journal of biological chemistrySpecific miRNAs are associated with human cancer cachexia in an organ-specific manner.
Journal of cachexia, sarcopenia and muscleTET2-mediated upregulation of 5-hydroxymethylcytosine in LRRC39 promoter promotes Th1 response in association with downregulated Treg response in Vogt-Koyanagi-Harada disease.
Clinical immunology (Orlando, Fla.)Patient with McCune albright syndrome: Case report and 10 Years of follow-up imaging examination.
Journal of clinical and experimental dentistryHIV epidemic in Mizoram, India: A rapid review to inform future responses.
The Indian journal of medical researchClinico-histopathological review of 255 patients who underwent parotidectomy for pleomorphic adenoma: a 10-year retrospective study-a proposal for an optimal diagnostic and therapeutic algorithm for patients with recurrent pleomorphic adenoma.
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 SurgeryThe Quest for Neurodegenerative Disease Treatment-Focusing on Alzheimer's Disease Personalised Diets.
Current issues in molecular biologyAnalysis of bulk RNA-seq data from sepsis patients reveals sepsis-associated lncRNAs and targeted cell death-related genes contributing to immune microenvironment regulation.
Frontiers in immunologyFulminant Susac syndrome-a rare cause of coma: The history of the fatal course in a young man.
SAGE open medical case reportsDifferential diagnosis of familial adult myoclonic epilepsy.
EpilepsiaBayesian sequential approach to monitor COVID-19 variants through positivity rate from wastewater.
medRxiv : the preprint server for health sciencesIdentification of the molecular mechanism of insulin-like growth factor-1 (IGF-1): a promising therapeutic target for neurodegenerative diseases associated with metabolic syndrome.
Cell & bioscienceMapping behavioural, cognitive and affective transdiagnostic dimensions in frontotemporal dementia.
Brain communicationsOverview of therapeutic options for epilepsy.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieChildhood Neurologic Conditions: Movement Disorders.
FP essentialsMicrobiome-gut-brain dysfunction in prodromal and symptomatic Lewy body diseases.
Journal of neurologyAdvantages and Disadvantages of Using St. John's Wort as a Treatment for Depression.
CureusSpotlight on liver macrophages for halting injury and progression in nonalcoholic fatty liver disease.
Expert opinion on therapeutic targetsNeurobehavioral deficits and a progressive ictogenesis in the tetrodotoxin model of epileptic spasms.
EpilepsiaNatural Food for Sarcopenia: A Narrative Review.
The Malaysian journal of medical sciences : MJMSPromising use of immune cell-derived exosomes in the treatment of SARS-CoV-2 infections.
Clinical and translational medicineBehavioral and molecular effects of Ubtf knockout and knockdown in mice.
Brain researchEssential and Non-Essential Amino Acids in Dogs at Different Stages of Chronic Kidney Disease.
Veterinary sciencesBi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
American journal of human geneticsAssociações
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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.
- Baseline IPSS-M vs Pretransplant Risk Downstaging as Prognostic Determinants in MDS Undergoing Allogeneic Transplantation.
- Intrapartum recognition and management of fetal inflammation.
- The RNA exosome maintains cellular RNA homeostasis by controlling transcript abundance in the brain.
- Utility of Locus Coeruleus Signal Intensity on High-resolution T1-weighted MR Imaging with Magnetization Transfer for Differentiating Parkinson's Disease from Atypical Parkinsonism.Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine· 2026· PMID 41184000mais citado
- The 9th International RASopathies Symposium.
- Mast cell mediators in hereditary angioedema.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
- The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:457212(Orphanet)
- OMIM OMIM:616269(OMIM)
- MONDO:0014559(MONDO)
- GARD:17798(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55784884(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