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.
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
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 20 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 43 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
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
Mitochondrion
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.
Variantes genéticas (ClinVar)
54 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de oftalmoplegia externa progressiva-miopatia-emaciação
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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.
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Ophthalmology and therapyMasquerade Syndrome Revealing a Vitreous Metastasis from Adenosquamous Lung Carcinoma in a Patient Treated with Pembrolizumab.
Ocular immunology and inflammationDissection 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 virologyClinical trials for Wolfram syndrome neurodegeneration: Novel design, endpoints, and analysis models.
PloS oneComputer Vision Technologies in Movement Disorders: A Systematic Review.
Movement disorders clinical practiceEmpty pelvis syndrome as a cause of major morbidity after pelvic exenteration: validation of a core data set.
The British journal of surgeryMucoepidermoid carcinoma of the parotid gland with invasion of the jugular foramen region: A case report.
MedicineQuantitative Stain-Free Conjunctival Collagen Imaging in Cicatrizing Conjunctivitis Using Second Harmonic Generation-Two Photon Excitation Technology.
Investigative ophthalmology & visual scienceSystemic Inflammatory Response Syndrome, Thromboinflammation, and Septic Shock in Fetuses and Neonates.
International journal of molecular sciencesThe impact of the inflammatory pulmonary microenvironment on the behavior and function of mesenchymal stromal cells.
Expert review of respiratory medicineDevelopment a nomogram for predicting HELLP syndrome in women complicated with gestational hypertension.
BMC pregnancy and childbirthSingle Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.
AJNR. American journal of neuroradiologyRisk stratification in Eisenmenger syndrome.
Archives of cardiovascular diseasesResearch progress on acupuncture intervention for cervical spondylotic radiculopathy with Qi stagnation and blood stasis syndrome: A review.
MedicineHip-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 MedicineCognitive Phenotyping and Interpretation of Alzheimer Blood Biomarkers.
JAMA neurologyA multicenter study on developing a prognostic model for severe fever with thrombocytopenia syndrome using machine learning.
Frontiers in microbiologySuccessful Acute-Phase Rehabilitation Leading to Activities of Daily Living Recovery in a Patient With Hypoxic Encephalopathy Following Prolonged Cardiopulmonary Arrest: A Case Report.
CureusTargeting VEGF signaling for tumor microenvironment remodeling and metastasis inhibition: Therapeutic strategies and insights.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieUtility of CSF IL-6 monitoring in managing ICANS associated with Epcoritamab treatment: a case report and literature review.
Journal of clinical and experimental hematopathology : JCEHMitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A Review.
GenesAmyloid PET predicts longitudinal functional and cognitive trajectories in a heterogeneous cohort.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationFunctional Genomics Using High-Throughput Methods for Salivary Analysis in Sjögren's Disease.
Oral diseasesGut microbiota: an emerging target connecting polycystic ovarian syndrome and insulin resistance.
Frontiers in cellular and infection microbiologyKearns-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 reportsThe evolution of division of labour: preconditions and evolutionary feedback.
Philosophical transactions of the Royal Society of London. Series B, Biological sciencesProgress of tanshinone IIA against respiratory diseases: therapeutic targets and potential mechanisms.
Frontiers in pharmacologyA systematic review of high-grade glioma associated with Li-Fraumeni syndrome.
Neurosurgical reviewNatural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.
medRxiv : the preprint server for health sciencesAdvances in the diagnosis and management of post-percutaneous coronary intervention coronary microvascular dysfunction: Insights into pathophysiology and metabolic risk interactions.
World journal of cardiologyRedox regulation: mechanisms, biology and therapeutic targets in diseases.
Signal transduction and targeted therapyHeritable Genetic Variability in Ovarian Tumours: Exploring Venous Thromboembolism Susceptibility and Cancer Prognosis in a Hospital-Based Study.
Gene[Causes of taste hyposensitivity in daily life and health risks: including the taste of fatty acids].
Nihon yakurigaku zasshi. Folia pharmacologica JaponicaA 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 BiologyGlucose Metabolic Reprogramming in Microglia: Implications for Neurodegenerative Diseases and Targeted Therapy.
Molecular neurobiologyRecognizing 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 GeneticsTherapy-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 MedicineSomatic Genomic and Transcriptomic Changes in Single Ischemic Human Heart Cardiomyocytes.
Research squareHearing Loss and Turner Syndrome: A Scoping Review.
The journal of international advanced otologyKlinefelter syndrome diagnosed at autopsy and small-cell lung carcinoma.
Respiratory medicine case reportsBilateral carotid body tumor management: tips, tricks, strategies, and problems.
Current opinion in otolaryngology & head and neck surgeryCharacterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
NeurologyTime-Space Network Hypertension in the Digital Era - Update From Jichi Medical University Hypertension Study.
Circulation journal : official journal of the Japanese Circulation SocietyColorectal carcinogenesis in the Lynch syndromes and familial adenomatous polyposis: trigger events and downstream consequences.
Hereditary cancer in clinical practiceContact Lenses in Therapeutic Care: A Comprehensive Review of Past Innovations, Present Applications, and Future Directions.
Advances in experimental medicine and biologyReview of femoroacetabular impingement syndrome.
Journal of hip preservation surgeryFactors of progression to severity and death in COVID-19 patients at two health care sites in Bamako, Mali.
BMC infectious diseases[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 medicaCytoplasmic regulation of the poly(A) tail length as a potential therapeutic target.
RNA (New York, N.Y.)Identification of early prognostic biomarkers in Severe Fever with Thrombocytopenia Syndrome using machine learning algorithms.
Annals of medicineMay-Thurner Syndrome: An Unusual Case of Unilateral Severe Deep Vein Thrombosis in a Middle-Aged Women.
Cureus[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 stomatologyMarginal 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 reportsArtificial Intelligence Assessment of Chest Radiographs for COVID-19.
Clinical lymphoma, myeloma & leukemia[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 medicaGenetic overlap between breast cancer and sarcopenia: exploring the prognostic implications of SLC38A1 gene expression.
BMC cancerGlobal, 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)A nomogram to predict the risk of insulin resistance in Chinese women with polycystic ovary syndrome.
Frontiers in endocrinologyMalignant thyroid neoplasm with ectopic Cushing's syndrome.
BMJ case reportsExpanded-Access Use of Elamipretide Improves Quality of Life in Patients With Rare Mitochondrial Disorders Characterized by Ophthalmic Symptoms: A Case Series.
Clinical case reportsSignificant Advancements and Evolutions in Chimeric Antigen Receptor Design.
International journal of molecular sciencesAssociações
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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.
- Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.
- Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.
- Global, regional, and national burden of chronic respiratory diseases and impact of the COVID-19 pandemic, 1990-2023: a Global Burden of Disease study.
- 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
- Early mortality risk prediction in severe fever with thrombocytopenia syndrome using an interpretable machine learning model based on routine clinical parameters.
- More than Cysts: Decoding Polycystic Ovarian Syndrome from Cells to Solutions.
- Association between metabolic syndrome, fatty liver disease, and gastrointestinal tumors: a population-based study with external validation.
- Long-term trends in Post-COVID severity: a machine learning analysis from the POP/COVIDOM cohort of the German NAPKON Cohort Network.
- Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.
- Idiopathic Musical Ear Syndrome in a Young Adult: A Case Report and Therapeutic Response.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:352447(Orphanet)
- OMIM OMIM:615084(OMIM)
- MONDO:0014039(MONDO)
- GARD:17517(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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