Doença inflamatória degenerativa lentamente progressiva dos músculos esqueléticos, caracterizada por fraqueza de início tardio de músculos específicos e características histopatológicas distintas.
Introdução
O que você precisa saber de cara
Doença inflamatória degenerativa lentamente progressiva dos músculos esqueléticos, caracterizada por fraqueza de início tardio de músculos específicos e características histopatológicas distintas.
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 62 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
2 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
Bifunctional enzyme that possesses both UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities, and serves as the initiator of the biosynthetic pathway leading to the production of N-acetylneuraminic acid (NeuAc), a critical precursor in the synthesis of sialic acids. By catalyzing this pivotal and rate-limiting step in sialic acid biosynthesis, this enzyme assumes a pivotal role in governing the regulation of cell surface sialylation, playing a role in embryonic angiogene
Cytoplasm, cytosol
Sialuria
In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant.
Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction
Cytoplasm, myofibril
Congenital myopathy 6 with ophthalmoplegia
A muscular disorder characterized by mild-to-moderate muscle weakness, ophthalmoplegia, and contractures at birth in some patients. Muscle biopsies from patients show predominance of type 1 fibers and small or absent type 2A fibers. The disease is non-progressive or it progresses very slowly. Inheritance is autosomal dominant or recessive.
Variantes genéticas (ClinVar)
651 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
4 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Miosite de corpos de inclusão
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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
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Outros ensaios clínicos
129 ensaios clínicos encontrados, 15 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 980
Modifying muscle metabolic dysregulation in inclusion body myositis with pioglitazone: a single-arm trial.
This single-arm, open-label phase 1 trial evaluated the PPARγ agonist pioglitazone in patients with inclusion body myositis (IBM). After a 16-week observation (lead-in) period, participants received pioglitazone 45 mg daily for 32 weeks. The primary outcome was the change in PPARGC1A expression and related metabolic pathways in muscle after 16 weeks of treatment compared with the lead-in period. Of the 16 enrolled participants, 13 initiated pioglitazone and completed at least one on-treatment assessment; the trial was terminated early due to the COVID-19 pandemic. At baseline, muscle metabolomics revealed broad metabolic abnormalities compared with controls. Pioglitazone reversed elements of this signature, increasing PPARGC1A expression (p = 0.099) and modulating downstream pathways in muscle, including enhanced oxidative phosphorylation. Clinical outcomes were unchanged overall, but a subset with favorable metabolic responses showed slower decline in the IBM-Functional Rating Score (IBM-FRS) and Modified Timed Up and Go (m-TUG). Reported adverse effects included myalgia and heart failure exacerbation. As a phase 1 trial with a limited cohort, these findings provide preliminary evidence that pioglitazone modulates muscle metabolism and warrants further investigation in IBM. This study was supported by the Ira T. Discovery Fund and the Peter and Carmen Lucia Buck Foundation Myositis Discovery Fund. Clinical Trials Registration: NCT03440034.
A 73-Year-Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping.
A 73-year-old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features characteristic of inclusion body myositis (IBM), including rimmed vacuoles, TDP-43 mislocalization, and autophagy activation. Additional extensive laboratory and imaging workup ruled out systemic etiologies. An empiric trial of high-dose corticosteroids yielded no clinical improvement. The diagnostic challenge stemmed from the broad differential diagnosis of granulomatous myositis and the possibility that non-IBM etiologies might be responsive to immunosuppressive treatment. This case underscores the importance of integrating clinical, electrophysiologic, radiologic, and histopathologic findings to accurately diagnose and manage granulomatous myositis.
Immunotherapies in autoimmune inflammatory myopathies: Rationale and therapeutic updates.
Autoimmune inflammatory myopathies (AIM) constitute a heterogeneous group of acquired myopathies with endomysial inflammation as a shared feature highlighting a potentially autoimmune inflammatory process amenable to immunotherapies. The disorders can be best classified as dermatomyositis, necrotizing autoimmune myositis, antisynthetase syndrome-overlap myositis, and inclusion body myositis. Because of clinical and immunohistologic heterogeneity but often overlapping pathophysiologic features among all major subsets, a correct diagnosis is critical from the outset to apply the most suitable and subset-specific immunotherapy. Advances in the immunopathologic characterization of autoimmune inflammatory myopathies have identified potentially mechanism-specific disease subsets that promise the application of targeted immunotherapies for better clinical outcomes. A number of recent clinical trials with biologic agents and monoclonal antibodies, regardless of the clinical outcome considering that several were negative, have collectively expanded our knowledge on the main pathogenic markers of autoimmunity associated with each AIM subset including the role of T-cell or B-cell factors, key cytokines, complement and various associated antibodies, or innate immunity factors. The paper summarizes the main clinical and histopathologic features of each myositis subtype, including overlapping or unique concepts of their immunopathogenic mechanisms, being mainly focused on applied immunotherapies and relevant controlled clinical trials discussing evidence-based efficacy according to the currently evolved therapeutic algorithm. The ongoing trials are also discussed highlighting those with promising future, if applied early in the disease, and the new immunotherapeutic interventions for the refractory AIM subsets.
Immune-Driven Expression in Inclusion Body Myositis With T-Cell Large Granular Lymphocytic Leukemia.
T-cell large granular lymphocytic leukemia (T-LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T-LGLL and the impact of coexisting T-LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of myopathies in patients with T-LGLL and compare the clinical, serological, pathological, and transcriptomic features of IBM patients with and without T-LGLL. We reviewed two Mayo Clinic cohorts: (1) T-LGLL patients evaluated for myopathies (2003-2018), and (2) IBM patients tested for T-LGLL via T-cell receptor gene rearrangement or flow cytometry (2016-2022). We also compared transcriptomic profiles of IBM muscle biopsies with and without T-LGLL. Of 447 T-LGLL patients, 13 (2.9%) had myopathies, IBM being the most common (n = 7). Of 43 IBM patients, 9 (20.9%) had T-LGLL, with 5 diagnosed prior to the onset of weakness. Clinical and pathological features were largely similar between IBM patients with and without T-LGLL, except for milder finger flexor weakness and more frequent neutropenia (55.6% vs. 0%, p < 0.001) in the T-LGLL group. However, transcriptomic analysis of muscle tissues revealed a more immunologically active profile, with upregulation of T-cell and macrophage markers, elevated levels of IFN-γ gene and IFN-γ-inducible genes, heightened cytokine activity, and enhanced immunoglobulin production in IBM patients with T-LGLL. IBM is the most common myopathy in T-LGLL patients. While clinico-sero-pathological features were largely similar, transcriptomic differences suggest IBM with T-LGLL may represent a distinct, more immune-driven subtype.
Muscle mitochondrial changes in antisynthetase syndrome and other idiopathic inflammatory myopathies.
Mitochondria are critical for cellular function. Their dysfunction contributes to cell degeneration and death, leading to disease progression. This study examined mitochondrial changes in idiopathic inflammatory myopathies (IIMs) including antisynthetase syndrome (ASyS), dermatomyositis (DM), and inclusion body myositis (IBM). Skeletal muscle biopsies were analyzed using histology, histochemistry, and electron microscopy from patients diagnosed with IIMs, according to the clinico-sero-morphological classification. There was no significant age difference between 16 ASyS and 16 DM patients, but 11 IBM patients were significantly older. The ASyS group had higher serum creatine kinase levels and showed prominent mitochondrial abnormalities similar to IBM and greater than the DM group. While all IIM groups displayed conventional mitochondrial changes, including ultrastructural abnormalities with cristae alterations, paracrystalline inclusions were exclusive to IBM and ASyS. There were significantly more rod-like filamentous inclusions adjacent to mitochondria in the IBM and ASyS groups, compared to the DM group. Intra-mitochondrial filament aggregates with focal formation of inclusions were also identified in individual ASyS and IBM patients, suggesting a link between the mitochondrial filamentous inclusions and nuclear and/or cytoplasmic filamentous inclusions. These findings suggest that mitochondrial abnormalities, particularly in ASyS and IBM, may contribute to the pathogenic process and clinical manifestations of the disease.
Publicações recentes
The NORAD-Pumilio regulatory axis in the evolution of inclusion body myositis.
Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent.
Evaluating ChatGPT's advice and recommendations regarding exercise for people with inclusion body myositis.
A New Immunofluorescence Assay Allows the Sensitive Detection of Anti-Cytosolic 5'-Nucleotidase 1A Autoantibodies.
Anti-signal recognition particle antibody-positive immune-mediated necrotising myopathy with inclusion body myositis-like features in a patient with human immunodeficiency virus and syphilis infection.
📚 EuropePMC1.119 artigos no totalmostrando 193
Anti-signal recognition particle antibody-positive immune-mediated necrotizing myopathy with inclusion body myositis-like features in a patient with human immunodeficiency virus and syphilis infection.
Modern rheumatology case reportsThe clinical, serological and myopathological features of a cohort of Chinese patients with inclusion body myositis: a single center analysis.
Frontiers in immunologyPrevalence and Risk of Falls and Fractures in the Idiopathic Inflammatory Myopathies: A Cross-Sectional Study of 470 Patients.
Rheumatology and therapyThe Myositis Overlap Conundrum: Differentiating Polymyositis from Inclusion Body Myositis.
Juntendo medical journalSemi-quantitative analyses of muscle magnetic resonance imaging for pattern recognition in early idiopathic inflammatory myopathies.
Journal of neuromuscular diseasesFatal Cardiomyopathy Secondary to Seronegative Immune-Mediated Necrotizing Myopathy: A Case Report.
The American journal of case reportsModifying muscle metabolic dysregulation in inclusion body myositis with pioglitazone: a single-arm trial.
Nature communicationsEvaluation of Dysphagia in Myositis and Muscular Dystrophy Using Real-Time MRI and Quantitative Muscle Ultrasound.
Journal of cachexia, sarcopenia and muscleLead Toxicity Masquerading as Autoimmune Haemolytic Anaemia: A Diagnostic Pitfall in Unexplained Anaemia.
CureusMultilevel impairment of mitochondrial respiration with sex-specific signatures in inclusion body myositis.
bioRxiv : the preprint server for biologyMitochondrial abnormalities in idiopathic inflammatory myopathies.
Clinical and experimental rheumatologyImproved Detection of Myositis-Specific Autoantibodies Using Luciferase Immunoprecipitation Systems Assay: Comparison with Line Blot and Conventional Immunoprecipitation.
Arthritis & rheumatology (Hoboken, N.J.)Spatial protein expression patterns across pathologically-associated fibers revealed molecular specialization in inclusion body myositis.
Cell communication and signaling : CCSAssociation between Oropharyngeal Dysphagia and Subgroups of Patients with Idiopathic Inflammatory Myopathy: A Cross-Sectional Study.
DysphagiaPotential pitfalls in the differential diagnosis of myositis versus hereditary myopathies.
Clinical and experimental rheumatologycN1A Antibody-Positive Inclusion Body Myositis Following Seminoma Manifesting With Slowly Progressive Paraparesis: A Case Report.
CureusKinematic features of dysphagia in inclusion body myositis.
Neuromuscular disorders : NMDProteomic profiles in inclusion body myositis and polymyositis with mitochondrial pathology.
Acta neuropathologica communicationsQuadriceps and ankle weakness in inclusion body myositis: impact on descending balance control and rehabilitation strategies - a systematic review.
BMC musculoskeletal disordersA 73-Year-Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping.
Annals of clinical and translational neurologyThe Role of Imaging Techniques in the Evaluation of Extraglandular Manifestations in Patients with Sjögren's Syndrome.
Diagnostics (Basel, Switzerland)The MicroIBioM study: the gut microbiome in inclusion body myositis.
Clinical and experimental rheumatologyMuscle Imaging in Inclusion Body Myositis: Refinement of MRI Criteria and Insights Into Upper Body Involvement.
Journal of cachexia, sarcopenia and muscleExpanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus-Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies.
Muscle & nerveImmunotherapies in autoimmune inflammatory myopathies: Rationale and therapeutic updates.
Handbook of clinical neurologyThe immune cell landscape analysed by imaging mass cytometry in the muscle of patients with inclusion body myositis associated or not with Sjögren's disease.
Rheumatology (Oxford, England)Immune-Driven Expression in Inclusion Body Myositis With T-Cell Large Granular Lymphocytic Leukemia.
Annals of clinical and translational neurologySpatially Resolved Profiling of Compartmentalized Muscle and Brain Inflammation.
European journal of immunologyTocilizumab in the Treatment of Sporadic Inclusion Body Myositis.
International journal of rheumatic diseases[A case of gastric emphysema with intra-abdominal free air that resolved with conservative treatment].
Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterologyMuscle mitochondrial changes in antisynthetase syndrome and other idiopathic inflammatory myopathies.
Journal of neuropathology and experimental neurologyAntisense oligonucleotides targeting valosin-containing protein ameliorate muscle pathology and molecular defects in cell and mouse models of multisystem proteinopathy.
Clinical and translational medicineComorbidities in idiopathic inflammatory myopathies: population-based evidence on risk subgroups and implications for delivery of care.
Current opinion in rheumatologyDermatomyositis and microscopic polyangiitis overlap: a case-based review.
Rheumatology internationalObturator hernia associated with inclusion body myositis: a case report.
Journal of medical case reportsCase Report: Progressive interstitial lung disease secondary to Sjögren's disease in a patient with inclusion body myositis complicated by dysphagia-a multidisciplinary approach and therapeutic challenges.
Frontiers in medicineAltered Transcriptome Signature in Primary Human Myotubes Exposed to Inclusion Body Myositis Serum: A Pilot Case Comparison of Anti-cN1A Positive and Negative Sera.
Muscles (Basel, Switzerland)Assessment of IBM-FRS total score and specific functional domains in a large cohort of inclusion body myositis patients.
Journal of neurologyMurine toxicology assessment of avgn7.2, a novel gene therapeutic for inclusion body myositis and other muscle wasting diseases.
Gene therapyBimagrumab: Novel Medical Therapy for Inclusion Body Myositis, Sarcopenia, and Medication-Induced Lean Body Mass Loss.
Cardiology in reviewUnmasking Idiopathic Inflammatory Myopathy: A Case of Proximal Weakness in a Young Male With Co-Occurring Vitamin D Deficiency.
Clinical case reportsRevisiting the link between oropharyngeal dysphagia and cancer in autoimmune myositis: a descriptive study.
Arthritis research & therapy[A case of inclusion body myositis with childhood onset].
Zhonghua er ke za zhi = Chinese journal of pediatricsNailfold videocapillaroscopy abnormalities in autoimmune inflammatory myopathy subsets.
Rheumatology (Oxford, England)The PTPN22 R620W polymorphism is associated with inclusion body myositis: data from the UKMyoNet study.
Rheumatology (Oxford, England)The Mythology of Polymyositis.
Rheumatic diseases clinics of North AmericaEmerging Treatment Options for Inclusion Body Myositis.
Rheumatic diseases clinics of North AmericaUpdates on Diagnostic Criteria of Inclusion Body Myositis.
Rheumatic diseases clinics of North AmericaEpidemiology of Dermatomyositis and Other Idiopathic Inflammatory Myopathies in Northern Spain.
BiomedicinesConcerns Regarding "Small Fiber Morphology and Function in Inclusion Body Myositis-A Multimodal Assessment Including Confocal Corneal Microscopy".
European journal of neurologyA case of Inclusion Body Myositis with Isolated Dysphagia: An Earlier-stage Diagnosis Using a Surgical Specimen from Cricopharyngeal Myotomy.
Internal medicine (Tokyo, Japan)Recent advances in immunological mechanisms and murine disease models of idiopathic inflammatory myopathies.
Inflammation and regenerationEnhanced proteasome activity in perifascicular myofibres is a hallmark of dermatomyositis and its inhibition is efficient in preclinical models.
Annals of the rheumatic diseasesSNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights.
Annals of clinical and translational neurologyIdiopathic inflammatory myopathy associated with Sjögren's disease: features of a distinct clinical entity.
Frontiers in immunologyN-formyl methionine peptide-driven neutrophil activation in idiopathic inflammatory myopathies.
Rheumatology (Oxford, England)Prevalence of vasculitis, systemic lupus erythematosus, rheumatoid arthritis, systemic sclerosis, idiopathic inflammatory myopathies and spondyloarthritis in Australia: a systematic review and meta-analysis.
Internal medicine journalMyopathology and Immune Profile of Granulomatous Myositis in Sarcoid Myopathy.
Neuropathology and applied neurobiologyLong-term oral glucocorticoid use is associated with complications, healthcare resource utilization, and costs among patients with dermatomyositis or polymyositis.
Clinical rheumatologyA Scoping Review of Respiratory Dysfunction in Inclusion Body Myositis.
International journal of rheumatic diseasesDual probe ligation in situ hybridization with rolling-circle amplification for high-plex spatial transcriptomics.
Biochemistry and biophysics reportsMutual reinforcement of lymphotoxin-driven myositis and impaired autophagy in murine muscle.
Brain : a journal of neurology[Not just frailty-Sjögren's syndrome and polymyositis with mitochondrial pathology].
Zeitschrift fur RheumatologiePrevalence and functional characterization of anti-interferon autoantibodies in inflammatory myopathies.
Rheumatology (Oxford, England)Genetics of myositis - distinct backgrounds of subtypes.
Journal of human geneticsSmall Fiber Morphology and Function in Inclusion Body Myositis-A Multimodal Assessment Including Confocal Corneal Microscopy.
European journal of neurologyLymphocyte Activation Gene 3 in Inclusion Body Myositis: A Novel Therapeutic Biomarker?
Muscle & nerveBefore Coming to the Conclusion That Inclusion Body Myositis Is a Risk Factor for a Heart Attack, All Influencing Factors Must Be Taken Into Account.
European journal of neurologyTDP-43 pathology induces CD8+ T cell activation through cryptic epitope recognition.
bioRxiv : the preprint server for biologyA Case of Anti-TIF1γ Antibody-Positive Dermatomyositis Associated With Malignancy.
CureusThe clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients.
Frontiers in immunologyCase Report of an Atypical Presentation of Inclusion Body Myositis Masquerading as Polymyalgia Rheumatica.
Current rheumatology reviewsCoexistence of Mycosis Fungoides and Photosensitive or Autoimmune Diseases. The Therapeutic Challenge: A retrospective Case Series from a Tertiary Referral Center.
The Israel Medical Association journal : IMAJMitochondrial pathology in inflammatory myopathies: a marker of worse clinical outcome.
Journal of neurologyExpression and Site-Specific Biotinylation of Human Cytosolic 5'-Nucleotidase 1A in Escherichia coli.
Methods and protocolsInfections preceding diagnosis associated with myositis phenotypes in a national patient registry.
Clinical and experimental rheumatologyTreatment of idiopathic inflammatory myopathies.
Joint bone spineCardiac involvement in established idiopathic inflammatory myopathy assessed by cardiac magnetic resonance mapping.
Clinical rheumatologyActivated Dendritic Cell Subsets Characterize Muscle of Inclusion Body Myositis Patients and Correlate with KLRG1+ and TBX21+ CD8+ T cells.
medRxiv : the preprint server for health sciencesLocal immunoglobulin expression in myositis is associated with interferon gamma signaling and correlates with disease activity.
medRxiv : the preprint server for health sciencesLAG3 Is Expressed on Muscle-Infiltrating Cytotoxic T Cells, but Scarce on Circulating T Cells, in Patients With Inclusion Body Myositis.
Muscle & nerveAgeing Signatures and Disturbed Muscle Regeneration in Muscle Proteome of Inclusion Body Myositis.
Journal of cachexia, sarcopenia and muscleInclusion body myositis - what are new lines of pathogenesis and therapy?
Current opinion in neurologyMitochondria-centred metabolomic map of inclusion body myositis: sex-specific alterations in central carbon metabolism.
Annals of the rheumatic diseasesCharacterizing local antibody responses in the muscle of inclusion body myositis patients.
Journal of autoimmunityAlpha-Synuclein as a Potential Biomarker for Inclusion Body Myositis in Blood and Muscle.
Neuropathology and applied neurobiologyRheumatic manifestations of HIV/AIDS.
Best practice & research. Clinical rheumatologyInclusion Body Myositis: A Case Report.
CureusThe Role of Repeat Skeletal Muscle Biopsy: Indications, Yield and Outcomes.
Muscle & nerveConcurrent Inclusion Body Myositis and Late Onset Pompe Disease: A Case Report.
Muscle & nerveIncreased Risk of Myocardial Infarction in Inclusion Body Myositis: A Non-Concurrent Cohort Study.
European journal of neurologyInterferon-γ causes myogenic cell dysfunction and senescence in immune myopathies.
Brain : a journal of neurologyAutophagy in myositis, a dysregulated pathway, and a target for therapy.
Autoimmunity reviewsChronic sarcoid myopathy mimicking facioscapulohumeral muscular dystrophy: a case report.
Neuromuscular disorders : NMDIdiopathic Inflammatory Myopathies: Recent Evidence Linking Pathogenesis and Clinical Features.
International journal of molecular sciencesMitochondrial damage is associated with an early immune response in inclusion body myositis.
Brain : a journal of neurologyStrapped for Strength: A Comparison Study of Dynamometry Techniques to Evaluate Knee Extensor Strength in Inclusion Body Myositis.
Muscle & nerveConverging Inflammations: Simultaneous Myositis and Polyneuropathy as a Diagnostic Challenge.
CureusThe caregiver burden of idiopathic inflammatory myopathies.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitationCardiac Involvement in Idiopathic Inflammatory Myopathies.
Journal of inflammation researchA systematic review and meta-analysis of the response to placebo in clinical trials of inclusion body myositis.
Rheumatology (Oxford, England)Cardiovascular events in patients with myositis: results from a French retrospective cohort.
RMD open2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.
Neurobiology of diseaseMyopathic aggregation-prone variants in the TDP-43 prion-like domain: genetics paving the way.
Brain : a journal of neurologyDistinct Cytokine and Cytokine Receptor Expression Patterns Characterize Different Forms of Myositis.
medRxiv : the preprint server for health sciencesQuantitative muscle magnetic resonance imaging as a biomarker for inclusion body myositis in clinical trials: exploring the in vivo effects of arimoclomol.
Clinical and experimental rheumatologyChallenges in international investigator-led rare disease clinical trials and the case for optimism in inclusion body myositis.
Clinical and experimental rheumatologyOptimism in inclusion body myositis: a double-blind randomised controlled phase III trial investigating the effect of sirolimus on disease progression in patients with IBM as measured by the IBM Functional Rating Scale.
Clinical and experimental rheumatologyUltrasensitive interferons quantification reveals different cytokine profile secretion in inflammatory myopathies and can serve as biomarkers of activity in dermatomyositis.
Frontiers in immunologyCorrigendum: Applicability of a serodiagnostic line blot for idiopathic inflammatory myopathy: the muscle biopsy is not all.
Frontiers in neurologyHuman induced pluripotent stem cell-derived myotubes to model inclusion body myositis.
Acta neuropathologica communicationsImaging evaluation of the upper limbs in inclusion body myositis: an unmet need.
Clinical and experimental rheumatologyCurrent biomarkers in inclusion body myositis.
Journal of neuromuscular diseasesAssociation of HLA-DR, HLA-DQ, and HLA-B alleles with inclusion body myositis risk: A systematic review, a meta-analysis, a meta-regression and a trial sequential analysis.
International journal of immunopathology and pharmacologyDetermining patient and carer priorities in inclusion body myositis: a patient-led research study.
Clinical and experimental rheumatologyEmerging mechanisms and therapeutics in inflammatory muscle diseases.
Trends in pharmacological sciencesThe utility of muscle magnetic resonance imaging in idiopathic inflammatory myopathies: a scoping review.
Frontiers in immunologyRetrospective analysis of US veterans with inclusion body myositis: initial findings from the Veterans Affairs Corporate Data Warehouse.
Military Medical ResearchEfficacy and safety of pharmacological treatments in inclusion body myositis: a systematic review.
RMD openApplicability of a serodiagnostic line blot for idiopathic inflammatory myopathy: the muscle biopsy is not all.
Frontiers in neurologyArtificial intelligence models using F-wave responses predict amyotrophic lateral sclerosis.
Brain : a journal of neurologySafe and Orally Bioavailable Inhibitor of Serine Palmitoyltransferase Improves Age-Related Sarcopenia.
ACS pharmacology & translational scienceMulti-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression.
Orphanet journal of rare diseasesRefining the clinical and therapeutic spectrum of granulomatous myositis from a large cohort of patients.
Journal of neurology[Neurology: what's new in 2024].
Revue medicale suisseThe relationship between patient-reported and clinician-assessed outcome measures in Inclusion body myositis - insights from a retrospective cohort study.
Neuromuscular disorders : NMDDifferentiating Inclusion Body Myositis From Amyotrophic Lateral Sclerosis Based on the Features of Dysphagia: Insights From a Patient With Rapidly Progressive Dysphagia.
Journal of clinical neurology (Seoul, Korea)Loss of TDP-43 Splicing Repression Occurs in Myonuclei of Inclusion Body Myositis Patients.
Annals of neurologyNLRP3 Inflammasome Activation and Altered Mitophagy Are Key Pathways in Inclusion Body Myositis.
Journal of cachexia, sarcopenia and muscleInclusion Body Myositis: A case report on navigating diagnostic challenges.
Sultan Qaboos University medical journalClinical Significance of Abnormal Serum LGALS3BP Expression in Patients with Idiopathic Inflammatory Myopathies.
Journal of inflammation researchSeeding-competent TDP-43 persists in human patient and mouse muscle.
Science translational medicineAutoantibodies against a subunit of mitochondrial respiratory chain complex I in inclusion body myositis.
Journal of autoimmunityOccupational and Hobby Exposures Associated With Myositis Phenotypes in a National Myositis Patient Registry.
Arthritis care & researchInclusion body myositis and immunosenescence: current evidence and future perspectives.
Rheumatology (Oxford, England)Whole-body-electro-myostimulation for the care of inclusion body myositis-A case report.
Clinical case reportsSerum creatine kinase elevation following tyrosine kinase inhibitor treatment in cancer patients: Symptoms, mechanism, and clinical management.
Clinical and translational scienceInclusion Body Myositis: A Late Diagnosis Case Report.
Reumatologia clinicaInclusion body myositis: an update.
Current opinion in rheumatologyIntramyocardial fatty infiltration lesion in sporadic inclusion body myositis: a case report.
The international journal of cardiovascular imagingLate-onset primary muscle diseases mimicking sarcopenia.
Geriatrics & gerontology internationalMyositis-specific and myositis-associated autoantibodies: their clinical characteristics and potential pathogenic roles.
Immunological medicineFeatures of Swallowing Function in Sporadic Inclusion Body Myositis: Preliminary Evidence Using Well-Tested Assessment Frameworks.
American journal of speech-language pathologyVolumetric muscle composition analysis in sporadic inclusion body myositis using fat-referenced magnetic resonance imaging: Disease pattern, repeatability, and natural progression.
Muscle & nerveRecent Updates on the Pathogenesis of Inflammatory Myopathies.
Current rheumatology reportsInclusion body myositis: Correcting impaired mitochondrial and lysosomal autophagy as a potential therapeutic strategy.
Autoimmunity reviewsContribution of major histocompatibility complex class II immunostaining in distinguishing idiopathic inflammatory myopathy subgroups: A histopathological cohort study.
Journal of neuropathology and experimental neurologyPathogenic mechanisms of disease in idiopathic inflammatory myopathies: autoantibodies as clues.
Frontiers in immunologyTLR7/8 Activation in Immune Cells and Muscle by RNA-Containing Immune Complexes: Role in Inflammation and the Pathogenesis of Myositis.
Arthritis & rheumatology (Hoboken, N.J.)What is in the Myopathy Literature?
Journal of clinical neuromuscular diseaseConstruct validity of PROMIS pain interference, fatigue, and physical function as patient-reported outcomes in adults with idiopathic inflammatory myopathies: An international study from the OMERACT myositis working group.
Seminars in arthritis and rheumatismImpact of sex, age at onset, and anti-cN1A antibodies on sporadic inclusion body myositis.
Journal of the neurological sciencesKey target genes related to anti-breast cancer activity of ATRA: A network pharmacology, molecular docking and experimental investigation.
HeliyonWatch for inclusion body myositis.
Practical neurologySporadic inclusion body myositis-derived myotube culture revealed muscle cell-autonomous expression profiles.
PloS onePatient experiences of muscle biopsy in idiopathic inflammatory myopathies: a cross-sectional survey.
Rheumatology internationalAnti-HMGCR myopathy: Diversity of clinical presentations in a national cohort in New Zealand.
Seminars in arthritis and rheumatismDistinct Transcript-Level Expression Profiles and Unique Alternative Splicing in Inflammatory Myopathies.
ACR open rheumatologyGranulomatous myositis: characteristics and outcome from a monocentric retrospective cohort study.
Neuromuscular disorders : NMDQuantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study.
Journal of neuromuscular diseasesDifferentiating idiopathic inflammatory myopathies by automated morphometric analysis of MHC-1, MHC-2 and ICAM-1 in muscle tissue.
Neuropathology and applied neurobiologyAnti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy.
Acta neuropathologicaMeasurement properties of the Inclusion Body Myositis Functional Rating Scale.
Journal of neurology, neurosurgery, and psychiatryAssociation between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.
International journal of molecular sciencesAnti-HMGCR (Hydroxy-3-Methylglutaryl-CoA Reductase) Myopathy: A Rare Cause of Proximal Muscle Weakness.
CureusImmunohistochemical expression in idiopathic inflammatory myopathies at a single center in Vietnam.
Journal of pathology and translational medicineA case of acute hypercapnic respiratory failure secondary to late onset nemaline rod myopathy: A multi-disciplinary approach.
Respiratory medicine case reportsTreatment resistance in inclusion body myositis: the role of mast cells.
Neuromuscular disorders : NMDAnesthesia Spearheading Perioperative Safety Efforts in a Patient with Inclusion Body Myositis: A Case Report.
Acta medica PhilippinaCell type mapping of inflammatory muscle diseases highlights selective myofiber vulnerability in inclusion body myositis.
Nature agingThe prevalence, epidemiological characteristics and mortality trends of inflammatory myopathies patients in Oman: the Prevision study.
Clinical and experimental rheumatologyMitochondrial defects in sporadic inclusion body myositis-causes and consequences.
Frontiers in cell and developmental biologyAutoantibody evaluation in idiopathic inflammatory myopathies.
Advances in clinical chemistry[Sporadic Inclusion Body Myositis].
Brain and nerve = Shinkei kenkyu no shinpoSystemic sclerosis associated myopathy: how to treat.
Current treatment options in rheumatologyWhole-body muscle magnetic resonance imaging in inflammatory myopathy with mitochondrial pathology.
Frontiers in neurologyCompound muscle action potential of whole-forearm flexors: A clinical biomarker for inclusion body myositis.
Clinical neurophysiology practiceInclusion body myositis, viral infections, and TDP-43: a narrative review.
Clinical and experimental medicineAssessing PET/CT's diagnostic accuracy in idiopathic myopathies.
Hellenic journal of nuclear medicineDiagnosing and characterizing inflammatory myopathies at an Australian tertiary public hospital: Resource utilization and direct healthcare costs.
International journal of rheumatic diseasesEffect of sirolimus on muscle in inclusion body myositis observed with magnetic resonance imaging and spectroscopy.
Journal of cachexia, sarcopenia and muscleEvaluation of Neuromuscular Diseases and Complaints by Quantitative Muscle MRI.
Journal of clinical medicineMyositis-associated antibodies predict the severity of lung involvement in adult patients with inflammatory myositis - a cohort study of 70 adult patients with myositis in a single center.
Frontiers in medicineRevealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.
Communications biologyQuantum simulation of Pauli channels and dynamical maps: Algorithm and implementation.
PloS oneIdentification of distinct immune signatures in inclusion body myositis by peripheral blood immunophenotyping using machine learning models.
Clinical & translational immunologyEffects of sporadic inclusion body myositis on skeletal muscle fibre type specific morphology and markers of regeneration and inflammation.
Rheumatology internationalInterpreting a Delayed Workup of Idiopathic Inflammatory Myopathy.
CureusSarcopenia assessed by DXA and hand-grip dynamometer: a potential marker of damage, disability and myokines imbalance in inflammatory myopathies.
Rheumatology (Oxford, England)Impaired health-related quality of life in idiopathic inflammatory myopathies: a cross-sectional analysis from the COVAD-2 e-survey.
Rheumatology advances in practice272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16-18 June 2023, Hoofddorp, The Netherlands.
Neuromuscular disorders : NMDParaneoplastic myopathies.
Handbook of clinical neurologyDoes inspiratory muscle training improve lung function and quality of life in people with inclusion body myositis? A pilot study.
Neuromuscular disorders : NMDAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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.
- Modifying muscle metabolic dysregulation in inclusion body myositis with pioglitazone: a single-arm trial.
- A 73-Year-Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping.
- Immunotherapies in autoimmune inflammatory myopathies: Rationale and therapeutic updates.
- Immune-Driven Expression in Inclusion Body Myositis With T-Cell Large Granular Lymphocytic Leukemia.
- Muscle mitochondrial changes in antisynthetase syndrome and other idiopathic inflammatory myopathies.
- The NORAD-Pumilio regulatory axis in the evolution of inclusion body myositis.
- Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent.
- Evaluating ChatGPT's advice and recommendations regarding exercise for people with inclusion body myositis.
- A New Immunofluorescence Assay Allows the Sensitive Detection of Anti-Cytosolic 5'-Nucleotidase 1A Autoantibodies.
- Anti-signal recognition particle antibody-positive immune-mediated necrotising myopathy with inclusion body myositis-like features in a patient with human immunodeficiency virus and syphilis infection.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:611(Orphanet)
- OMIM OMIM:147421(OMIM)
- MONDO:0007827(MONDO)
- GARD:3896(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1848471(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
