Raras
Buscar doenças, sintomas, genes...
Síndrome de oftalmoplegia externa progressiva-miopatia-emaciação
ORPHA:352447CID-10 · G71.3OMIM 615084DOENÇA RARA

A síndrome de oftalmoplegia externa progressiva-miopatia-emaciação é um distúrbio raro de fosforilação oxidativa mitocondrial devido a anomalias do DNA nuclear caracterizada por oftalmoplegia externa progressiva sem diplopia, atrofia cerebelar, fraqueza muscular esquelética proximal com perda muscular generalizada, emagrecimento profundo, insuficiência respiratória, deformidade espinhal e fraqueza muscular facial (manifestando-se com ptose, disfonia, disfagia e fala nasal). Deficiência intelectual, sintomas gastrointestinais (por exemplo, náuseas, plenitude abdominal e perda de apetite), cardiomiopatia dilatada e cólica renal também foram relatados.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome de oftalmoplegia externa progressiva-miopatia-emaciação é um distúrbio raro de fosforilação oxidativa mitocondrial devido a anomalias do DNA nuclear caracterizada por oftalmoplegia externa progressiva sem diplopia, atrofia cerebelar, fraqueza muscular esquelética proximal com perda muscular generalizada, emagrecimento profundo, insuficiência respiratória, deformidade espinhal e fraqueza muscular facial (manifestando-se com ptose, disfonia, disfagia e fala nasal). Deficiência intelectual, sintomas gastrointestinais (por exemplo, náuseas, plenitude abdominal e perda de apetite), cardiomiopatia dilatada e cólica renal também foram relatados.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
6
pacientes catalogados
Início
All ages
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G71.3
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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

🫃
Digestivo
4 sintomas
💪
Músculos
4 sintomas
🧠
Neurológico
3 sintomas
🫁
Pulmão
3 sintomas
😀
Face
2 sintomas
❤️
Coração
2 sintomas

+ 20 sintomas em outras categorias

Características mais comuns

100%prev.
Atrofia cerebelar
Raro (<5%)
100%prev.
Oftalmoplegia externa progressiva
Muito frequente (99-80%)
100%prev.
Fibras musculares vermelhas rasgadas
Frequente (79-30%)
100%prev.
Atividade diminuída do complexo I mitocondrial
Frequência: 4/4
100%prev.
Múltiplas deleções de DNA mitocondrial
Frequência: 6/6
83%prev.
Amiotrofia generalizada
Frequente (79-30%)
43sintomas
Muito frequente (6)
Frequente (22)
Ocasional (6)
Muito raro (3)
Sem dados (6)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 43 características clínicas mais associadas, ordenadas por frequência.

Atrofia cerebelarCerebellar atrophy
Raro (<5%)100%
Oftalmoplegia externa progressivaProgressive external ophthalmoplegia
Muito frequente (99-80%)100%
Fibras musculares vermelhas rasgadasRagged-red muscle fibers
Frequente (79-30%)100%
Atividade diminuída do complexo I mitocondrialDecreased activity of mitochondrial complex I
Frequência: 4/4100%
Múltiplas deleções de DNA mitocondrialMultiple mitochondrial DNA deletions
Frequência: 6/6100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025144 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

MGME1Mitochondrial genome maintenance exonuclease 1Disease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endonuclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch ba

LOCALIZAÇÃO

Mitochondrion

VIAS BIOLÓGICAS (1)
Strand-asynchronous mitochondrial DNA replication
MECANISMO DE DOENÇA

Mitochondrial DNA depletion syndrome 11

An autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia, muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities.

EXPRESSÃO TECIDUAL(Ubíquo)
Skin Not Sun Exposed Suprapubic
42.5 TPM
Skin Sun Exposed Lower leg
41.2 TPM
Linfócitos
38.8 TPM
Fibroblastos
33.5 TPM
Baço
31.1 TPM
OUTRAS DOENÇAS (1)
mitochondrial DNA depletion syndrome 11
HGNC:16205UniProt:Q9BQP7

Variantes genéticas (ClinVar)

54 variantes patogênicas registradas no ClinVar.

🧬 MGME1: NM_052865.4(MGME1):c.34C>T (p.Gln12Ter) ()
🧬 MGME1: NM_052865.4(MGME1):c.463C>T (p.Arg155Trp) ()
🧬 MGME1: NM_052865.4(MGME1):c.484G>C (p.Glu162Gln) ()
🧬 MGME1: NM_052865.4(MGME1):c.589_590del (p.Arg196_Asp197insTer) ()
🧬 MGME1: NM_052865.4(MGME1):c.846T>A (p.Asp282Glu) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de oftalmoplegia externa progressiva-miopatia-emaciação

🗺️

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.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.

European journal of neurology2026 Mar

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an extremely rare autosomal recessive disease caused by variants in the thymidine phosphorylase gene (TYMP), primarily characterized by severe gastrointestinal and neurological symptoms. The complete phenotype of MNGIE has not been linked to any gene other than TYMP. We describe two identical twins who exhibited delayed psychomotor development, infantile bilateral cataract, congenital demyelinating polyneuropathy, and severe progressive gastrointestinal dysmotility with recurrent pseudo-obstruction episodes, along with diffuse supratentorial leukoencephalopathy that mainly overlaps with classic TYMP-related MNGIE. During the course of the disease, one patient developed Wernicke encephalopathy, triggered by chronic malnutrition related to recurrent gastrointestinal pseudo-obstruction. This patient later suffered from a catastrophic stroke-like episode, resulting in massive cerebral edema and brain death at the age of 38. Next-generation sequencing (NGS) using a custom-targeted mitochondrial gene panel identified two compound heterozygous variants in the POLG gene: the paternal variants p.Thr251Ile and p.Pro587Leu, occurring in cis, and the novel maternal variant p.Arg853Gly. Quantification of mtDNA by real-time PCR on skeletal muscle DNA detected significant depletion, but no multiple deletions were detected with mtDNA analysis by long-range PCR and Nanopore sequencing. These cases showed a very distinctive POLG phenotype, with some MNGIE-like features, expanding the clinical and genetic spectrum of the POLG-related diseases. Additionally, they highlighted the importance of monitoring for thiamine deficiency in mitochondrial patients with severe gastrointestinal dysmotility who experience sudden clinical deterioration.

#2

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Neurology2026 Feb 10

Twinkle, encoded by the TWNK gene, is a mitochondrial DNA helicase that unwinds the double helix of DNA during replication, playing a pivotal role in mitochondrial function. Twinkle-related disorders encompass a variety of genetic disorders characterized by mitochondrial dysfunction. Although several phenotypes have been described, the full clinical and molecular spectrum remains poorly defined. The aim of this study was to characterize the phenotypic and genotypic variability among multinational patients diagnosed with Twinkle-related disorders. A retrospective cohort study was conducted in patients with Twinkle-related disorders at several specialized centers in Italy, France, Germany, Spain, Denmark, Hungary, and the United States, establishing the Twinkle-Related Disorders International Consortium for Trial Readiness (TReDIC). Data were collected from medical records, including clinical features, age at onset, disease progression, and results from genetic testing. Phenotypic categories included infantile-onset cerebellar ataxia, parkinsonism, primary mitochondrial myopathy (PMM), multisystem involvement, asymptomatic carriers, undetermined phenotypes, and other phenotypes. All patients' diagnoses were confirmed by genetic analysis, and their genetic variants were noted. Outcomes included prevalence of phenotypes, symptom chronology, and mutational patterns. The study included a total of 189 patients (116 female), with a mean age at symptom onset of 40.3 years. At the time of analysis, 70.4% were alive. PMM was the predominant syndrome (85.2%), and most common features were progressive external ophthalmoplegia (84.7%) and skeletal myopathy (55.6%), followed by hearing loss (17.5%) and psychiatric symptoms (15.3%). Most patients (76.8%) presented with neuromuscular symptoms, with fewer showing CNS (19.6%) or multiorgan (3.6%) features at onset; by more than 8 years from onset, these proportions shifted to 54.4%, 23.3%, and 23.3%, respectively. A total of 73 TWNK variants (16 novel) were found, mostly missense, clustered in functionally critical regions. This large multinational cohort analysis advances our understanding of Twinkle-related disorders by identifying mutational hotspots with clinical relevance and illustrating the broad phenotypic spectrum and progression patterns. In the context of such rare diseases, the formation of international collaborations, such as TReDIC, can enhance our understanding and support the design of upcoming clinical trials.

#3

Global, regional, and national burden of chronic respiratory diseases and impact of the COVID-19 pandemic, 1990-2023: a Global Burden of Disease study.

Nature medicine2026 Jan

Chronic respiratory diseases, including chronic obstructive pulmonary disease (COPD), asthma, pneumoconiosis, interstitial lung disease (ILD) and pulmonary sarcoidosis, are major global causes of mortality and morbidity. Although the COVID-19 pandemic has influenced acute respiratory health, its impact on chronic respiratory conditions remains unclear. We estimated the global, regional and national burden of chronic respiratory diseases from 1990 to 2023, including risk factors, and evaluated how these burdens have shifted during the COVID-19 pandemic using the Global Burden of Disease Study 2023. In 2023, chronic respiratory diseases accounted for 569.2 million (95% uncertainty interval (UI), 508.8-639.8) cases and 4.2 million (3.6-5.1) deaths. The age-standardized death rate declined by 25.7% globally from 1990 to 2023 despite an increase in ILD and pulmonary sarcoidosis. Mortality declined in younger males, especially for asthma, whereas older adults experienced a rise in ILD and pulmonary sarcoidosis. Smoking was the primary risk factor for COPD, whereas high body mass index and silica exposure were key risk factors for asthma and pneumoconiosis. During the pandemic, the incidence of chronic respiratory diseases increased modestly, but the decline in mortality rates became more pronounced, highlighting the need for sustained global attention and action to address their long-term burden.

#4

Non-neurological, non-skeletal outcomes after hematopoietic stem and progenitor cell-gene therapy (OTL-203) for Hurler syndrome.

Molecular therapy : the journal of the American Society of Gene Therapy2026 Jan 07

Patients with mucopolysaccharidosis type I Hurler (MPSIH) experience multisystem clinical manifestations, which are only partially addressed by allogeneic hematopoietic stem cell transplantation (allo-HSCT). This study evaluated outcomes from a lentiviral vector-mediated hematopoietic stem and progenitor cell-gene therapy (HSPC-GT) trial (NCT03488394) in eight MPSIH patients followed up to 4 years post-treatment. Key findings included corneal clouding, hearing loss (HL), carpal tunnel syndrome (CTS), and cardiac evaluations. A retrospective comparison with an external cohort of nine MPSIH patients undergoing allo-HSCT was performed. All patients are alive at last follow-up, show stable engraftment without graft failure, insertional oncogenesis, or immune responses to the transgene. Notably, at last follow-up 3/8 HSPC-GT patients experienced corneal clouding resolution, while all allo-HSCT patients maintained moderate corneal clouding; 4/8 HSPC-GT patients showed normal hearing function at last follow-up due to improvement (n = 3) or stabilization (n = 1); 7/9 allo-HSCT patients had mild or moderate HL at baseline, while 2/9 showed moderate HL at last follow-up. No HSPC-GT patients required surgery for CTS developed after HSPC-GT, while 7/9 patients needed such surgery after allo-HSCT. No HSPC-GT patients developed severe cardiomyopathy or valvular disease, while in the HSCT cohort 4/9 patients experienced progression of valvular insufficiency although not requiring valve replacement. Our results indicate a favorable effect of HSPC-GT on MPSIH multisystemic manifestations up to 4 years after treatment; long-term, prospective comparative studies are warranted for definitive conclusions.

#5

Early mortality risk prediction in severe fever with thrombocytopenia syndrome using an interpretable machine learning model based on routine clinical parameters.

Frontiers in public health2026

Severe Fever with Thrombocytopenia Syndrome (SFTS) is characterized by high mortality and rapid progression, necessitating accurate early prognosis to optimize supportive care. However, current predictive tools often lack interpretability, require sophisticated tests unavailable in resource-limited areas, or suffer from poor generalizability. This study aimed to develop an interpretable, parsimonious, and deployable machine learning model for early mortality prediction in SFTS. We analyzed data from 834 SFTS patients across three medical centers in Anhui, China. A LightGBM model was developed using a derivation cohort (n = 571) and validated on internal (n = 143) and two independent external cohorts (n = 80 and n = 183). Model interpretability was enhanced using SHapley Additive exPlanations (SHAP), and a web-based calculator was deployed for clinical use. The LightGBM model identified six routine clinical parameters-Age, Lactate Dehydrogenase (LDH), Activated Partial Thromboplastin Time (APTT), Uric Acid (UA), Creatinine (CRE), and Body Temperature-as the most influential predictors. Integrating these features, the model achieved robust discrimination with an Area Under the Curve (AUC) of 0.960 in the training set and 0.938 in the internal validation set. Crucially, it maintained strong performance in two independent external validation cohorts (AUC 0.871 and 0.877). SHAP analysis revealed that Age and LDH were the strongest risk factors, while Temperature exhibited a non-linear relationship with mortality risk. We developed and validated a high-performance, interpretable ML model for SFTS prognosis relying on only six readily available parameters. By deploying this parsimonious model as an online calculator, we provide a practical decision-support tool to facilitate early risk stratification and timely intervention, particularly in resource-limited settings.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Early mortality risk prediction in severe fever with thrombocytopenia syndrome using an interpretable machine learning model based on routine clinical parameters.

Frontiers in public health
2026

Artificial Intelligence Applications in COVID-19-Associated Coagulopathy: Lessons Learned.

Seminars in thrombosis and hemostasis
2026

A Clinical Data-Based Nomogram Prediction Model for ARDS in Patients With Acute Pancreatitis.

International journal of general medicine
2026

More than Cysts: Decoding Polycystic Ovarian Syndrome from Cells to Solutions.

Current drug research reviews
2026

Association between metabolic syndrome, fatty liver disease, and gastrointestinal tumors: a population-based study with external validation.

Frontiers in nutrition
2026

Long-term trends in Post-COVID severity: a machine learning analysis from the POP/COVIDOM cohort of the German NAPKON Cohort Network.

EClinicalMedicine
2026

Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.

Mitochondrion
2026

Idiopathic Musical Ear Syndrome in a Young Adult: A Case Report and Therapeutic Response.

American journal of audiology
2026

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.

European journal of neurology
2026

Cardiac rehabilitation based on enhanced external counterpulsation in patients with acute coronary syndrome.

Frontiers in cardiovascular medicine
2026

Retinal Phenotype in Mucopolysaccharidosis Type III.

American journal of ophthalmology
2026

Proximal Iliotibial Band Syndrome, A Rare Diagnosis of Lateral Thigh Pain in A Nonathlete: A Case Report.

Pain medicine case reports
2026

Predicting cardiovascular risk across cardiovascular-kidney-metabolic syndrome stages in middle-aged and older Chinese adults: An interpretable machine learning analysis.

Digital health
2026

Intramuscular pathways of maladaptation in overtraining syndrome.

The Journal of physiology
2026

Acute Neurological and Respiratory Complications Induced by Wasp Stings: A Case Report.

The American journal of case reports
2026

Single-Cell Transcriptomic Analysis Reveals ISG15 as a Key Regulator of Macrophage-Mediated Inflammation Driving Primary Sjögren's Syndrome Progression.

Critical reviews in immunology
2026

Obsessive-compulsive disorder onset and clinical course in the context and treatment of pineal region germinoma and obstructive hydrocephalus: a case report.

Frontiers in child and adolescent psychiatry
2026

Immune gene correlation networks differentiate both chronic lung allograft dysfunction and survival.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons
2026

Machine learning evaluation of the discriminative ability of Castelli Risk Index-I and other non-traditional lipid indices for sarcopenia: a cross-sectional study based on CHARLS.

Lipids in health and disease
2025

Metabolic syndrome and diabetic kidney disease: a consistent dose-response association validated in an independent clinical cohort.

Frontiers in endocrinology
2026

Performance of machine learning algorithms in diffusion tensor imaging of movement disorders: an exploratory meta-analysis.

Biomedical engineering online
2026

Neurotrophic keratopathy in childhood: advances in understanding of pathogenesis and management.

Eye (London, England)
2026

Development and Validation of a Clinical Risk Score for Post-extubation Dysphagia (CRISPED) in Critically Ill Children.

Dysphagia
2026

Development and validation of an interpretable machine learning model for early prediction of deterioration in patients with severe fever with thrombocytopenia syndrome.

Acta tropica
2026

Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes.

Molecular genetics and metabolism
2025

Suprascapular nerve entrapment syndrome caused by a spinoglenoid notch cyst with a concomitant giant lipoma: a case report.

Frontiers in surgery
2026

[Optical Coherent Tomography: A Tool for Non-Invasive Biopsy in Women's Health].

Harefuah
2025

Lemierre's Syndrome Complicated by Descending Mediastinitis.

Cureus
2026

Mirizzi Syndrome With a Hepatic Duct Confluence Fistula and Stone Migration Into the Left Hepatic Duct: A Case Report.

Cureus
2026

Fatty acid metabolism: opportunities and challenges of traditional Chinese medicine in the treatment of renal fibrosis.

Chinese medicine
2026

GPR81 Activation by Lactate Delays Inflammation Resolution in Acute Lung Injury.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Mutation of the highly conserved amino acids in the N-terminal region of the EV-A71 VP1 protein impairs viral RNA release during virus entry.

Microbiology spectrum
2026

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Neurology
2026

Progress in Research on Alleviating the Symptoms Associated With Advanced Cancer Using Traditional Chinese Medicine.

Pain research &amp; management
2026

Early Diagnosis of ATTR-CM Using Carpal Tunnel Biopsy Examination: EDUCATE: A United Kingdom Prospective Multicenter Study.

JACC. Heart failure
2025

Neutrophil-to-Lymphocyte Ratio Correlation With the Synergy Between Percutaneous Coronary Intervention With Taxus and Cardiac Surgery (SYNTAX) Score in Patients With Non-ST-Segment Elevation Acute Coronary Syndrome.

Cureus
2025

Predictors of Percutaneous Endoscopic Gastrostomy-Related Complications in Amyotrophic Lateral Sclerosis: A 19-Year Retrospective Study From a Tertiary Center.

Journal of digestive diseases
2025

Neurotoxicity of Chronic Alcohol Exposure: Mechanistic Insights, Cellular Disruption, and Emerging Therapeutic Strategies.

International journal of molecular sciences
2025

Inflammation as a Prognostic Marker in Cardiovascular Kidney Metabolic Syndrome: A Systematic Review.

International journal of molecular sciences
2026

Urgent radiotherapy for superior vena cava syndrome in metastatic non-small cell lung cancer: a case report.

Technical innovations &amp; patient support in radiation oncology
2025

[Clinical strategies of classical formulae in treatment of chronic obstructive pulmonary disease].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2025

[Development of core outcome set for efficacy evaluation of traditional Chinese medicine treatment of early-stage respiratory virus infection with external cold and internal heat syndrome].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

CEN case reports
2025

Subphenotyping sepsis based on organ interaction trajectory using a deep temporal graph clustering model: a retrospective cohort study.

EClinicalMedicine
2026

Global, regional, and national burden of chronic respiratory diseases and impact of the COVID-19 pandemic, 1990-2023: a Global Burden of Disease study.

Nature medicine
2026

The role of artificial intelligence in estimating stroke events in Moyamoya patients: A systematic review and meta-analysis of diagnostic test accuracy.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2025

Ophthalmoplegia and vision loss in extrapulmonary tuberculosis with bilateral cavernous sinus involvement.

IDCases
2025

Clinical outcomes of giant coronary aneurysms in South Asian children with Kawasaki disease.

Pediatric rheumatology online journal
2025

An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery.

Clinical, cosmetic and investigational dermatology
2025

Model organisms in POLG-related disorders: insights from yeast to multicellular systems.

Cell death &amp; disease
2025

Case Report: Neonatal nephropathy with polycystic appearance in child harboring WT1 variant.

Frontiers in pediatrics
2026

Deep Learning-Based Brainstem Segmentation and Multi-Class Classification for Parkinsonian Syndrome.

Journal of magnetic resonance imaging : JMRI
2025

Deciphering the mechanism of aristolochic acid I-driven hepatocellular carcinoma through integrated network toxicology and bioinformatics.

Naunyn-Schmiedeberg's archives of pharmacology
2025

Development of a predictive model for severe adverse outcomes following surgery for neonatal necrotizing enterocolitis: a nomogram study based on postoperative intestinal failure beyond 42 days and death.

Frontiers in pediatrics
2025

Recommendations from the WHO guideline for the prevention, diagnosis, and treatment of infertility.

Fertility and sterility
2025

Association between vascular aging and cardiovascular-kidney-metabolic syndrome.

Frontiers in endocrinology
2025

Applications of Artificial Intelligence as a Prognostic Tool in the Management of Acute Aortic Syndrome and Aneurysm: A Comprehensive Review.

Journal of clinical medicine
2025

When Should We Biopsy? A Risk Factor-Based Predictive Model for EIN and Endometrial Cancer.

Cancers
2025

Early Experience With Percutaneous Pulmonary Blood Flow Restrictors to Allow Deferral of Norwood Surgery.

World journal for pediatric &amp; congenital heart surgery
2025

A Case Report of HIV-Associated Pituitary Lymphoma and Review of the Literature.

Clinical case reports
2025

Prognostic value of pulmonary vessel-related structures in rapid progression of idiopathic inflammatory myopathy-associated interstitial lung disease: a retrospective study from two centres.

BMJ open respiratory research
2026

Recommendations from the WHO guideline for the prevention, diagnosis, and treatment of infertility†.

Human reproduction (Oxford, England)
2025

A Triad of Telltale Clues: Macroglossia Raccoon Eye and Nerve Compression Unveil Amyloid Light Chain Amyloidosis.

The Journal of the Association of Physicians of India
2025

The relationship between subjective shoulder discomfort and quantitative humeral head translation in baseball players; cross-sectional study.

BMC sports science, medicine &amp; rehabilitation
2025

Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia-A Case Report of the Coexistence of Two Rare Diseases in One Patient.

Reports (MDPI)
2025

Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementia.

medRxiv : the preprint server for health sciences
2025

Disorder of consciousness rather than complete Locked-In Syndrome for end stage Amyotrophic Lateral Sclerosis: a case series.

Communications medicine
2025

Integrating network toxicology, machine learning, and single-cell data to explore the mechanism of sepsis-related biomarkers associated with TCDD.

Ecotoxicology and environmental safety
2025

Internal Ophthalmoplegia and Bulbar Palsy: A Rare Case Report on the Atypical Presentation of Miller-Fisher Syndrome.

Neurology India
2025

Monocyte-driven IFN and TNF programs orchestrate inflammatory networks in antisynthetase syndrome-associated interstitial lung disease.

Frontiers in immunology
2025

An Unusual Presentation of Orbital Compartment Syndrome: A Case Report.

Clinical practice and cases in emergency medicine
2026

A case of POLG-related mitochondrial DNA maintenance defect.

Acta neurologica Belgica
2025

Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).

Frontiers in neurology
2025

Mayer-Rokitansky-Küster-Hauser syndrome type II. Case report.

JBRA assisted reproduction
2025

A case of hypoplasia of internal carotid artery and intracranial vasculopathy with Moyamoya syndrome in association with Alagille syndrome.

Journal of cerebrovascular and endovascular neurosurgery
2025

Risk Factors and Prevention of Musculoskeletal Injuries in Adolescent and Adult High-Performance Tennis Players: A Systematic Review.

Sports (Basel, Switzerland)
2025

Analysis of risk factors for major adverse cardiac events in patients with multiple myeloma.

Frontiers in cardiovascular medicine
2025

Early subtypes and progressions of progressive supranuclear palsy: a data-driven brain bank study.

Journal of neurology
2025

Pearls and Oy-sters: Chronic Progressive External Ophthalmoplegia With Electrical Myotonia and Negative Initial Genetic Testing.

Neurology
2025

The microbiota-gut-brain axis in mental and neurodegenerative disorders: opportunities for prevention and intervention.

Frontiers in aging neuroscience
2026

Choroidal neovascularization in a teenager with Kearns Sayre syndrome.

Ophthalmic genetics
2025

Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).

Molecular genetics and metabolism
2025

Performance of diabetes risk prediction models: a systematic review and meta-analysis.

Endocrine connections
2025

Neuromodulation for Tourette syndrome: current techniques and future perspectives.

Journal of neural engineering
2026

Stiff Person Syndrome in the Hospice Patient: A Case Report and Discussion.

Journal of palliative medicine
2026

Computational Characterization of Lymphocyte Topology on Whole Slide Images of Glomerular Diseases.

Journal of the American Society of Nephrology : JASN
2025

Development of a Prognostic Nomogram for Severe Fever With Thrombocytopenia Syndrome Using Machine Learning: A Multicenter Retrospective Study.

Journal of medical virology
2025

Identification of early warning biomarkers for type 4 cardio-renal syndrome based on bioinformatics analysis and secreted proteins.

Scientific reports
2025

Development and external validation of a machine learning-based predictive model for acute kidney injury in hospitalized children with idiopathic nephrotic syndrome.

BMC medical informatics and decision making
2025

Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report.

The American journal of case reports
2025

Ophthalmological signs and sensorimotor evaluation in mitochondrial chronic progressive external ophthalmoplegia: a multidisciplinary prospective study.

BMC ophthalmology
2025

Efgartigimod for treating Guillain-Barré syndrome with poor response to intravenous immunoglobulin: a case report.

BMC neurology
2025

Cytomegalovirus-Associated Parainfectious Miller Fisher Syndrome Without Anti-GQ1b Antibodies: A Case Report.

The Neurohospitalist
2025

Chronic Progressive External Ophthalmoplegia (CPEO): Rehabilitation utilizing scleral contact lenses.

American journal of ophthalmology case reports
2026

Non-neurological, non-skeletal outcomes after hematopoietic stem and progenitor cell-gene therapy (OTL-203) for Hurler syndrome.

Molecular therapy : the journal of the American Society of Gene Therapy
2025

Establishment of an Advanced In Vitro Model for Pseudoexfoliation Syndrome and Glaucoma.

Investigative ophthalmology &amp; visual science
2025

Predicting the rapid progression of coronary artery lesions in patients with acute coronary syndrome based on machine learning.

Frontiers in cardiovascular medicine
2025

Minimum effective low dose of antithymocyte globulin in people aged 5-25 years with recent-onset stage 3 type 1 diabetes (MELD-ATG): a phase 2, multicentre, double-blind, randomised, placebo-controlled, adaptive dose-ranging trial.

Lancet (London, England)
2025

Cranioplasty complications in severe traumatic brain injury: implications of timing of surgery, implant material and incidence of vetriculomegaly versus Post-Traumatic hydrocephalus.

Neurosurgical review
2025

[Using Xiaoqinglong Decoction to Treat Acute Exacerbation of Chronic Obstructive Pulmonary Disease Presenting External Cold and Internal Fluid Retention Syndrome: Observation of the Clinical Efficacy].

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition
2025

Vanishing Gastroschisis: The Importance of Prenatal Diagnosis in a Seemingly Normal Abdomen.

European journal of pediatric surgery reports
2025

Expanding the Clinical, Radiological, and Pathological Spectrum of SLIPPERS-A Rare Steroid-Responsive Neuroinflammation.

Neurology India
2026

Enhancing interpretability of AI with radiomics-based deep neural network: proof of concept in the classification of Parkinsonian syndromes with 18F-FDG PET imaging.

European journal of nuclear medicine and molecular imaging
2025

Pyrimidine Nucleos(t)ide Therapy in Patients With Thymidine Kinase 2 Deficiency: A Multicenter Retrospective Chart Review Study.

Neurology
2025

Asian Subgroup Analysis of Patients in the Phase 2 DeLLphi-301 Study of Tarlatamab for Previously Treated Small Cell Lung Cancer.

Oncology and therapy
2025

Drug-induced liver injury. Part II: Late complications and hepatotoxicity monitoring.

Clinical and experimental hepatology
2025

Dynamic nomogram predicts sepsis risk in patients with acute liver failure: Analysis of intensive care database with external validation.

World journal of gastroenterology
2025

Development and validation of an interpretable multi-task model to predict outcomes in patients with rhabdomyolysis: a multicenter retrospective cohort study.

EClinicalMedicine
2025

Single-cell sequencing analysis and multiple machine learning methods identified immune-associated SERPINB1 and CPEB4 as novel biomarkers for COVID-19-induced ARDS.

Die Naturwissenschaften
2025

Recurrent Syncope and Drooping Eyes in a Young Woman: Kearns-Sayre Syndrome.

JACC. Clinical electrophysiology
2025

Crucial Role of Early Detection in Managing Heart Failure in Kearns-Sayre Syndrome: A Case Report.

The American journal of case reports
2025

Fatal pneumonia in a patient with Kearns-Sayre syndrome case report and literature review.

Frontiers in medicine
2025

MYRF gene mutation leading to coronary artery anomaly combined with 46,XY sex development disorder, a case report and literature review.

BMC pediatrics
2025

Arm Position with Increased Risk of Partial Subscapularis Tear Progression Owing to Subluxation of the Long Head of Biceps Tendon: Cadaveric Biomechanical Study.

Clinics in orthopedic surgery
2025

Personalized external aortic root support: The Dutch experience.

The Journal of thoracic and cardiovascular surgery
2025

Exploring the predictive "psycho-biomarkers" for checkpoint immunotherapy in cancer.

Frontiers in immunology
2025

Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes.

Orphanet journal of rare diseases
2025

Identification of Glycolysis-Related Genes in MAFLD and Their Immune Infiltration Implications: A Multi-Omics Analysis with Experimental Validation.

Biomedicines
2025

Research progress on damage-associated molecular patterns in acute kidney injury.

Frontiers in immunology
2025

Mechanical Thrombectomy for Iliofemoral Deep Venous Thrombosis Complicated by Phlegmasia Cerulea Dolens in a Pregnant Patient With May-Thurner Syndrome: A Case Report.

Cureus
2024

Mitophagy modulation rescues single large-scale mitochondrial DNA deletion (SLSMD) disease symptoms in the C. elegans uaDf5 animal model.

bioRxiv : the preprint server for biology
2025

Frailty in COPD: Clinical Impact, Diagnosis, Biomarkers, and Management Strategies.

International journal of chronic obstructive pulmonary disease
2025

Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease.

Genome biology
2025

Neuroimaging characteristics of single Large-Scale mitochondrial DNA deletion syndromes.

Neuroradiology
2025

A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder.

American journal of medical genetics. Part A
2025

A Prediction Model of Disease Progression in X-Linked Alport syndrome Based on Clinical Characteristics and Genetic Variants.

Kidney international reports
2025

A prediction model for 30-day mortality in patients with ARDS admitted to the intensive care unit.

European journal of medical research
2025

Fatal Reversible Cerebral Vasoconstriction Syndrome: A Complication of Postpartum Haemorrhagic Shock.

Cureus
2025

A case report of septic shock caused by opportunistic infections associated with anti-interferon-γ autoantibody positivity: diagnostic and therapeutic challenges.

Frontiers in medicine
2025

Low- and negative-pressure hydrocephalus in children, clinical features, treatment, prognosis and proposed mechanisms.

Frontiers in pediatrics
2025

New intervention strategy for postoperative fatigue syndrome in elderly patients with colorectal cancer: a clinical hypothesis study based on vagus nerve stimulation.

Frontiers in medicine
2025

Expanding the Genetic and Phenotypic Spectrum of Kearns-Sayre Syndrome: A Case Report.

Cureus
2025

Kearns-Sayre syndrome presenting with fanconi syndrome: a case report.

Translational pediatrics
2025

Research progress on the regulation of interstitial cell of Cajal autophagy and apoptosis crosstalk by traditional Chinese medicine in gastrointestinal motility disorders.

Journal of ethnopharmacology
2025

Moyamoya Disease in a Patient With Cerebral Palsy Presenting With Intraventricular Hemorrhage and Hydrocephalus Requiring Ventriculoperitoneal Shunt Placement: A Case Report.

Cureus
2025

Should Ivabradine be First-Line Therapy for Inappropriate Sinus Tachycardia?

Pacing and clinical electrophysiology : PACE
2025

Serum LncRNA PSMB8-AS1 as a novel biomarker for predicting acute coronary syndrome.

Scientific reports
2025

Construction of Diagnostic Model for Regulatory T Cell-Related Genes in Sepsis Based on Machine Learning.

Biomedicines
2025

Symptomology and Impact of Dry Eye Disease: A Patient and Physician Perspective.

Ophthalmology and therapy
2026

Masquerade Syndrome Revealing a Vitreous Metastasis from Adenosquamous Lung Carcinoma in a Patient Treated with Pembrolizumab.

Ocular immunology and inflammation
2025

Dissection of the global responses of mandarin fish pyloric cecum to an acute ranavirus (MRV) infection reveals the formation of serositis and then ascites.

Journal of virology
2025

Clinical trials for Wolfram syndrome neurodegeneration: Novel design, endpoints, and analysis models.

PloS one
2025

Computer Vision Technologies in Movement Disorders: A Systematic Review.

Movement disorders clinical practice
2025

Empty pelvis syndrome as a cause of major morbidity after pelvic exenteration: validation of a core data set.

The British journal of surgery
2025

Mucoepidermoid carcinoma of the parotid gland with invasion of the jugular foramen region: A case report.

Medicine
2025

Quantitative Stain-Free Conjunctival Collagen Imaging in Cicatrizing Conjunctivitis Using Second Harmonic Generation-Two Photon Excitation Technology.

Investigative ophthalmology &amp; visual science
2025

Systemic Inflammatory Response Syndrome, Thromboinflammation, and Septic Shock in Fetuses and Neonates.

International journal of molecular sciences
2025

The impact of the inflammatory pulmonary microenvironment on the behavior and function of mesenchymal stromal cells.

Expert review of respiratory medicine
2025

Development a nomogram for predicting HELLP syndrome in women complicated with gestational hypertension.

BMC pregnancy and childbirth
2025

Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.

AJNR. American journal of neuroradiology
2025

Risk stratification in Eisenmenger syndrome.

Archives of cardiovascular diseases
2025

Research progress on acupuncture intervention for cervical spondylotic radiculopathy with Qi stagnation and blood stasis syndrome: A review.

Medicine
2025

Hip-focused strengthening and task-specific movement training for an individual with chronic, recurrent femoroacetabular impingement syndrome.

Physical therapy in sport : official journal of the Association of Chartered Physiotherapists in Sports Medicine
2025

Cognitive Phenotyping and Interpretation of Alzheimer Blood Biomarkers.

JAMA neurology
2025

A multicenter study on developing a prognostic model for severe fever with thrombocytopenia syndrome using machine learning.

Frontiers in microbiology
2025

Successful Acute-Phase Rehabilitation Leading to Activities of Daily Living Recovery in a Patient With Hypoxic Encephalopathy Following Prolonged Cardiopulmonary Arrest: A Case Report.

Cureus
2025

Targeting VEGF signaling for tumor microenvironment remodeling and metastasis inhibition: Therapeutic strategies and insights.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2025

Utility of CSF IL-6 monitoring in managing ICANS associated with Epcoritamab treatment: a case report and literature review.

Journal of clinical and experimental hematopathology : JCEH
2025

Mitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A Review.

Genes
2025

Amyloid PET predicts longitudinal functional and cognitive trajectories in a heterogeneous cohort.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2025

Functional Genomics Using High-Throughput Methods for Salivary Analysis in Sjögren's Disease.

Oral diseases
2025

Gut microbiota: an emerging target connecting polycystic ovarian syndrome and insulin resistance.

Frontiers in cellular and infection microbiology
2025

Kearns-Sayre syndrome presenting with progressive external ophthalmoplegia and third-degree atrioventricular block diagnostic challenge in resource-limited settings: a case report.

Journal of medical case reports
2025

The evolution of division of labour: preconditions and evolutionary feedback.

Philosophical transactions of the Royal Society of London. Series B, Biological sciences
2025

Progress of tanshinone IIA against respiratory diseases: therapeutic targets and potential mechanisms.

Frontiers in pharmacology
2025

A systematic review of high-grade glioma associated with Li-Fraumeni syndrome.

Neurosurgical review
2025

Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.

medRxiv : the preprint server for health sciences
2025

Advances in the diagnosis and management of post-percutaneous coronary intervention coronary microvascular dysfunction: Insights into pathophysiology and metabolic risk interactions.

World journal of cardiology
2025

Redox regulation: mechanisms, biology and therapeutic targets in diseases.

Signal transduction and targeted therapy
2025

Heritable Genetic Variability in Ovarian Tumours: Exploring Venous Thromboembolism Susceptibility and Cancer Prognosis in a Hospital-Based Study.

Gene
2025

[Causes of taste hyposensitivity in daily life and health risks: including the taste of ‍fatty acids].

Nihon yakurigaku zasshi. Folia pharmacologica Japonica
2025

A novel, rapidly progressive ataxia due to a spontaneous Myo5a mutation in mice impairs transport proteins and alters mitochondria.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2025

Glucose Metabolic Reprogramming in Microglia: Implications for Neurodegenerative Diseases and Targeted Therapy.

Molecular neurobiology
2025

Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS).

Genetics in medicine : official journal of the American College of Medical Genetics
2025

Therapy-Related Myeloid Neoplasms After [177Lu]Lu-PSMA Therapy in Patients with Metastatic Castration-Resistant Prostate Cancer: A Case Series.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine
2025

Somatic Genomic and Transcriptomic Changes in Single Ischemic Human Heart Cardiomyocytes.

Research square
2025

Hearing Loss and Turner Syndrome: A Scoping Review.

The journal of international advanced otology
2025

Klinefelter syndrome diagnosed at autopsy and small-cell lung carcinoma.

Respiratory medicine case reports
2025

Bilateral carotid body tumor management: tips, tricks, strategies, and problems.

Current opinion in otolaryngology &amp; head and neck surgery
2025

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.

Neurology
2025

Time-Space Network Hypertension in the Digital Era - Update From Jichi Medical University Hypertension Study.

Circulation journal : official journal of the Japanese Circulation Society
2025

Colorectal carcinogenesis in the Lynch syndromes and familial adenomatous polyposis: trigger events and downstream consequences.

Hereditary cancer in clinical practice
2025

Contact Lenses in Therapeutic Care: A Comprehensive Review of Past Innovations, Present Applications, and Future Directions.

Advances in experimental medicine and biology
2024

Review of femoroacetabular impingement syndrome.

Journal of hip preservation surgery
2025

Factors of progression to severity and death in COVID-19 patients at two health care sites in Bamako, Mali.

BMC infectious diseases
2024

[Heart failure: innovative understanding from traditional Chinese medicine (TCM) and treatment with classic TCM formulas].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2025

Cytoplasmic regulation of the poly(A) tail length as a potential therapeutic target.

RNA (New York, N.Y.)
2025

Identification of early prognostic biomarkers in Severe Fever with Thrombocytopenia Syndrome using machine learning algorithms.

Annals of medicine
2024

May-Thurner Syndrome: An Unusual Case of Unilateral Severe Deep Vein Thrombosis in a Middle-Aged Women.

Cureus
2025

[Analysis of difficulties in diagnosis and treatment of cracked tooth and research progress].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2024

Marginal zone lymphoma of mucosa associated lymphoid tissue-lymphoma of the lacrimal gland in a young patient with Klinefelter syndrome: a case report.

Journal of medical case reports
2025

Artificial Intelligence Assessment of Chest Radiographs for COVID-19.

Clinical lymphoma, myeloma &amp; leukemia
2024

[Research progress of traditional Chinese medicine in treatment of benign prostatic hyperplasia].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2024

Genetic overlap between breast cancer and sarcopenia: exploring the prognostic implications of SLC38A1 gene expression.

BMC cancer
2025

Global, regional, and national progress towards the 2030 global nutrition targets and forecasts to 2050: a systematic analysis for the Global Burden of Disease Study 2021.

Lancet (London, England)
2024

A nomogram to predict the risk of insulin resistance in Chinese women with polycystic ovary syndrome.

Frontiers in endocrinology
2024

Malignant thyroid neoplasm with ectopic Cushing's syndrome.

BMJ case reports
2024

Expanded-Access Use of Elamipretide Improves Quality of Life in Patients With Rare Mitochondrial Disorders Characterized by Ophthalmic Symptoms: A Case Series.

Clinical case reports
2024

Significant Advancements and Evolutions in Chimeric Antigen Receptor Design.

International journal of molecular sciences

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome de oftalmoplegia externa progressiva-miopatia-emaciação.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de oftalmoplegia externa progressiva-miopatia-emaciação

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.
    European journal of neurology· 2026· PMID 41841518mais citado
  2. Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.
    Neurology· 2026· PMID 41538773mais citado
  3. Global, regional, and national burden of chronic respiratory diseases and impact of the COVID-19 pandemic, 1990-2023: a Global Burden of Disease study.
    Nature medicine· 2026· PMID 41495401mais citado
  4. Non-neurological, non-skeletal outcomes after hematopoietic stem and progenitor cell-gene therapy (OTL-203) for Hurler syndrome.
    Molecular therapy : the journal of the American Society of Gene Therapy· 2026· PMID 41017152mais citado
  5. Early mortality risk prediction in severe fever with thrombocytopenia syndrome using an interpretable machine learning model based on routine clinical parameters.
    Frontiers in public health· 2026· PMID 41878102mais citado
  6. More than Cysts: Decoding Polycystic Ovarian Syndrome from Cells to Solutions.
    Curr Drug Res Rev· 2026· PMID 41863122recente
  7. Association between metabolic syndrome, fatty liver disease, and gastrointestinal tumors: a population-based study with external validation.
    Front Nutr· 2026· PMID 41859663recente
  8. Long-term trends in Post-COVID severity: a machine learning analysis from the POP/COVIDOM cohort of the German NAPKON Cohort Network.
    EClinicalMedicine· 2026· PMID 41852926recente
  9. Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.
    Mitochondrion· 2026· PMID 41850596recente
  10. Idiopathic Musical Ear Syndrome in a Young Adult: A Case Report and Therapeutic Response.
    Am J Audiol· 2026· PMID 41842678recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:352447(Orphanet)
  2. OMIM OMIM:615084(OMIM)
  3. MONDO:0014039(MONDO)
  4. GARD:17517(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q26492822(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

Compêndio · Raras BR

Síndrome de oftalmoplegia externa progressiva-miopatia-emaciação

ORPHA:352447 · MONDO:0014039
Prevalência
<1 / 1 000 000
Casos
6 casos conhecidos
Herança
Autosomal recessive
CID-10
G71.3 · Miopatia mitocondrial não classificada em outra parte
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C3554462
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades