Introdução
O que você precisa saber de cara
Síndrome rara autossômica dominante caracterizada por tremor cinético, nistagmo e úlcera duodenal. Frequentemente associada a morfologia cerebelar anormal, ataxia e outros distúrbios do movimento.
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
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 3 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 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
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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-nistagmo-úlcera duodenal
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Impact of Post-Transplant Cyclophosphamide on the Prognostic Value of HCT-CI.
The hematopoietic cell transplant comorbidity index (HCT-CI) is a validated prognostic tool for baseline assessment in allogeneic hematopoietic cell transplantation (HCT). The impact of the individual components of the HCT-CI on prognosis remains unknown for patients undergoing post-transplant cyclophosphamide (PTCY) based graft versus host disease (GVHD) prophylaxis. Data were collected and validated from patients undergoing HCT for myelodysplastic syndrome or acute myeloid leukemia at our center between 2018 and 2022. Multivariable regression analysis was used to identify an optimized subset of HCT-CI; Akaike information index (AIC) was used to assess model fit; C-index was used to evaluate the predictive ability of models. From 586, 184 (31%) received PTCY; HCT-CI comorbidities were balanced between non-PTCY and PTCY- subgroups except for renal, which was only present in 8 patients. Higher HCT-CI was associated with an increased cumulative incidence of NRM in univariable (3-year NRM: 22% (≥ 5) vs 12% (2-4) vs 4.8% (0-1), p=0.0002) and multivariable analysis (subdistribution HR 4.28 for HCT-CI≥ 5, p=0.0003, 2.61 for 2-4, p=0.013). Subset of HCT-CI comorbidities-diabetes, infection, peptic ulcer disease, renal, rheumatologic, and severe pulmonary comorbidities- had a similar impact on NRM as the total score. Diabetes and cardiac comorbidities had a strong association with NRM, and the addition of cardiac comorbidities improved the C-index only in the PTCY subgroup. The HCT-CI retains prognostic significance in the PTCY era, although refinement may be required. Future studies can identify links between cardiac comorbidities and NRM when using PTCY.
Current and emerging approaches to manage chronic inflammatory gut disorders.
Chronic inflammatory gastrointestinal disorders, including inflammatory bowel disease (IBD), Crohn's disease, ulcerative colitis, and irritable bowel syndrome (IBS), remain challenging to manage due to complex etiologies, heterogeneous disease progression, and limitations in current diagnostic and therapeutic strategies. Existing clinical approaches rely on a combination of invasive and non-invasive diagnostic tools, while therapeutic management predominantly involves symptomatic control, disease-modifying pharmacotherapy, and surgical interventions. However, these strategies often fail to enable early or real-time disease detection and frequently fall short of achieving sustained remission. This review highlights two emerging and potentially transformative approaches: nanomedicine and living diagnostic-therapeutic systems. Nanomedicine has gained significant attention for its ability to enhance targeted drug delivery and improve therapeutic efficiency, addressing several limitations of conventional treatments; nevertheless, challenges related to delivery consistency, biosafety, scalability, and long-term efficacy persist. In parallel, living diagnostic-therapeutic systems-engineered whole-cell sensors capable of real-time sensing and on-demand therapeutic response within the gut-represent a compelling alternative. Although still at an early stage of development, promising preclinical and limited clinical studies demonstrate their potential utility. Key challenges remain, including biosensor functionality, genetic stability, microbial colonization, host-microbe interactions, and integration into existing healthcare frameworks, alongside regulatory and translational barriers. Overall, the convergence of nanomedicine and living, responsive systems may offer a transformative pathway for the diagnosis and treatment of chronic inflammatory gut diseases.
Prevalence of Latent and Active Tuberculosis Infection in Inflammatory Bowel Disease Patients Who Received Biological Treatment.
This study aims to assess the frequency of latent tuberculosis (TB) and the incidence of active TB infection in patients with inflammatory bowel disease (IBD) and Behçet's syndrome with gastrointestinal involvement who received either tumor necrosis factor-alpha (TNF-α) antagonist therapy or vedolizumab as a second-line biologic treatment following TNF-α antagonist therapy. A total of 349 patients were included in the study. Demographic data, disease characteristics, TB screening results, prophylactic treatment regimens and the duration, as well as side effects were collected from patient records. Among the patients, 196 (56.1%) were male, with a mean age of 42 years and a mean disease duration of 10 Å} 6 years. A total of 267 (76.5%) had Crohn's disease, 76 (21.8%) had ulcerative colitis, 3 had indeterminate colitis (0.8%), and 3 had Behçet's syndrome with gastrointestinal involvement (0.8%). Latent TB was diagnosed in 176 (50.4%) patients, and 162 (92%) of them received isoniazid prophylaxis. Six (1.7%) patients developed active TB infection during the treatment period, occurring between 2 and 48 months after initiating TNF-α antagonist therapy. No cases of tuberculosis were observed in patients who had vedolizumab treatment. Among those who developed TB, 3 patients had pulmonary TB, and 3 had both pulmonary and extrapulmonary TB. No significant association was found between TB development and IBD phenotype or isoniazid use. Despite latent TB screening and prophylactic treatment, patients receiving TNF-α antagonists remain at risk of developing active TB, with a latent TB prevalence of 50.4% and an active TB incidence of 1.7%. These findings underscore the continued need for vigilance and robust TB monitoring strategies in this patient population.
Magnesium Deficiency Accelerates Gut Aging and Increases Susceptibility to Colitis.
Aging is linked to a higher incidence of gut diseases such as inflammatory bowel disease (IBD), yet the underlying mechanisms remain unclear. We identified an age-related decline in magnesium (Mg) levels specifically in the gut across species, prompting investigation of its role in intestinal health. Functional studies demonstrated that Mg restriction accelerates gut aging in old but not in young mice and aggravates colitis severity. Multi-omics analysis of mouse tissues revealed that dietary Mg deficiency reshapes the phosphoproteome and N-glycoproteome, destabilizing adhesion complexes, a hallmark of intestinal aging and inflammation. In the UK Biobank cohort (n = 182,213), dietary Mg intake was inversely correlated with gut disorder risk, with 334.7-420.0 mg/day conferring significant protection against Crohn's disease, ulcerative colitis, irritable bowel syndrome, and diverticular disease. These findings identify Mg homeostasis as a key regulator of gut health and highlight Mg supplementation as a potential strategy to counteract age-related gut dysfunction.
Extensive Oral Ulcerations After Stem Cell Transplant.
A 69-year-old male patient presented with worsening new-onset oral ulcerations and pain. He had myelodysplastic syndrome and underwent an allogeneic hematopoietic stem cell transplant 18 months prior. What is your diagnosis?
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Radiology case reportsCytomegalovirus colitis in a woman with Sheehan syndrome.
QJM : monthly journal of the Association of PhysiciansLactate dehydrogenase to albumin ratio as a convenient parameter for predicting the severity of Behçet disease: a cross-sectional study.
BMC immunologyEfficacy and safety of low-dose interleukin 2 for Behçet's syndrome: a randomized, placebo-controlled, double-blind, phase 2 clinical trial.
Nature communicationsClinical efficacy and mechanisms of hyperbaric oxygen therapy in the treatment of rheumatic and immune diseases.
Frontiers in medicineFrom the archives of MD Anderson Cancer Center: Paraneoplastic autoimmune multiorgan syndrome (PAMS) associated with stroma-rich Castleman disease.
Annals of diagnostic pathologyThe relationship between Braden Skin Score (BSS) and the risk of acute respiratory distress syndrome in elderly sepsis patients: An analysis based on the MIMIC-IV database.
PloS one[Gastro- Intestinal Complications in ICU Burn Patients].
Annals of burns and fire disastersCurcumin alleviates murine ulcerative colitis by modulating Tfh-B cell crosstalk via the CD40/CD40L costimulatory pathway.
The Journal of nutritional biochemistryResults of dedicated venous nitinol stents in treating chronic inferior vena cava occlusions.
Journal of vascular surgery. Venous and lymphatic disordersAtypical Calciphylaxis Following Parathyroidectomy and Persistent Severe Hypocalcemia in a Hemodialysis Patient: A Case Report.
CureusEvaluation of a nutraceutical for prevention of equine ulcer recurrence.
Equine veterinary journalInferior Gluteal Nerve Originating From the Common Fibular Nerve: A Histologically Validated Anatomical Variant With Clinical Implications.
CureusPatient Outcomes Among Medicare Beneficiaries With Guillain-Barré Syndrome.
Journal of the peripheral nervous system : JPNSCurcumin Modulates TIGIT/Neuropilin-1 to Regulate T-Cell Immune Homeostasis in Ulcerative Colitis.
Foods (Basel, Switzerland)Dental Caries and Erosion in Children with Nephrotic Syndrome on Long-Term Liquid Medications-A Cross-Sectional Observational Study.
Journal of clinical medicineCurrent Medical Controversies in Zollinger-Ellison Syndrome.
BiomedicinesNeutrophils: emerging perspectives on the pathogenesis of oral mucosal diseases.
Frontiers in cellular and infection microbiologyManagement of Severe Riga-Fede Disease in a Child With MIRAGE Syndrome.
CureusMid and Long-term Results of Endovascular Treatment of Thoracic Penetrating Aortic Ulcers.
Journal of endovascular therapy : an official journal of the International Society of Endovascular SpecialistsFrom bilateral pulmonary embolism to the final diagnosis of Behçet's disease: a rare case report.
Thrombosis journalEndovascular treatment of patients concurrent with type 3A aortic syndrome and degeneration (infrarenal) abdominal aortic aneurysm.
Journal of the Chinese Medical Association : JCMAParasutterella excrementihominis exacerbates experimental colitis and colitis-associated colorectal cancer via pathogenic NETosis activation.
GutIsotretinoin-related adverse sexual and reproductive outcomes: a real-world pharmacovigilance study of the FDA Adverse Event Reporting System (FAERS).
Cutaneous and ocular toxicologyFirst documented isolation of Diutina mesorugosa (Candida mesorugosa) from a clinical sample in Argentina.
Revista Argentina de microbiologiaAortic Arch Morphology as a Predictor of Dissection Type: Unveiling the Hidden Link.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryOutcomes Following Iliac Vein Stenting for Non-Thrombotic Iliac Vein Lesions-A Narrative Review Based on Large Sample Studies.
Journal of functional biomaterialsInvestigating the Causal Relationship and Shared Genetic Basis Between Major Depression Disorder and Eight Types of Gastrointestinal Diseases.
Genetics researchAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de tremor-nistagmo-úlcera duodenal.
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Comunidades
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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.
- Impact of Post-Transplant Cyclophosphamide on the Prognostic Value of HCT-CI.
- Current and emerging approaches to manage chronic inflammatory gut disorders.
- Prevalence of Latent and Active Tuberculosis Infection in Inflammatory Bowel Disease Patients Who Received Biological Treatment.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology· 2026· PMID 41846472mais citado
- Magnesium Deficiency Accelerates Gut Aging and Increases Susceptibility to Colitis.
- Extensive Oral Ulcerations After Stem Cell Transplant.
- A de novo SALL4 mutation causes unilateral renal agenesis by misregulating genes involved in kidney development.
- Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
- Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3350(Orphanet)
- OMIM OMIM:190310(OMIM)
- MONDO:0008591(MONDO)
- GARD:3948(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55781570(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