Raras
Buscar doenças, sintomas, genes...
Miosite de corpos de inclusão
ORPHA:611CID-10 · M60.8CID-11 · 4A41.20OMIM 147421DOENÇA RARA

Doença inflamatória degenerativa lentamente progressiva dos músculos esqueléticos, caracterizada por fraqueza de início tardio de músculos específicos e características histopatológicas distintas.

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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.

Pesquisas ativas
15 ensaios
129 total registrados no ClinicalTrials.gov
Publicações científicas
2.168 artigos
Último publicado: 2026 Apr 17

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.5
Europe
Início
Adult
+ elderly
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: M60.8
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

💪
Músculos
29 sintomas
🛡️
Imunológico
2 sintomas
📏
Crescimento
2 sintomas
🦴
Ossos e articulações
2 sintomas
😀
Face
2 sintomas
🫃
Digestivo
1 sintomas

+ 20 sintomas em outras categorias

Características mais comuns

90%prev.
Fibras musculares vermelhas rasgadas
Muito frequente (99-80%)
90%prev.
Vacúolos com bordas
Muito frequente (99-80%)
90%prev.
Morfologia anormal da fibra muscular
Muito frequente (99-80%)
90%prev.
Autoimunidade
Muito frequente (99-80%)
90%prev.
Fraqueza do músculo quadríceps
Muito frequente (99-80%)
90%prev.
Miopatia inflamatória
Muito frequente (99-80%)
62sintomas
Muito frequente (10)
Frequente (3)
Ocasional (1)
Sem dados (48)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 62 características clínicas mais associadas, ordenadas por frequência.

Fibras musculares vermelhas rasgadasRagged-red muscle fibers
Muito frequente (99-80%)90%
Vacúolos com bordasRimmed vacuoles
Muito frequente (99-80%)90%
Morfologia anormal da fibra muscularAbnormal muscle fiber morphology
Muito frequente (99-80%)90%
AutoimunidadeAutoimmunity
Muito frequente (99-80%)90%
Fraqueza do músculo quadrícepsQuadriceps muscle weakness
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico2.168PubMed
Últimos 10 anos200publicações
Pico2025103 papers
Linha do tempo
2026Hoje · 2026🧪 1990Primeiro ensaio clínico📈 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

2 genes identificados com associação a esta condição. Padrão de herança: Not applicable.

GNEBifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Sialic acid metabolism
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
33.4 TPM
Glândula salivar
24.0 TPM
Cérebro - Hemisfério cerebelar
23.1 TPM
Cólon transverso
21.3 TPM
Ovário
21.0 TPM
OUTRAS DOENÇAS (4)
GNE myopathysialuriathrombocytopenia 12 with or without myopathyplatelet-type bleeding disorder 19
HGNC:23657UniProt:Q9Y223
MYH2Myosin-2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction

LOCALIZAÇÃO

Cytoplasm, myofibril

VIAS BIOLÓGICAS (2)
Regulation of actin dynamics for phagocytic cup formationFCGR3A-mediated phagocytosis
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Músculo esquelético
1068.0 TPM
Glândula salivar
7.2 TPM
Cólon sigmoide
0.5 TPM
Testículo
0.5 TPM
Pulmão
0.4 TPM
OUTRAS DOENÇAS (3)
myopathy, proximal, and ophthalmoplegiachildhood-onset autosomal recessive myopathy with external ophthalmoplegiahereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
HGNC:7572UniProt:Q9UKX2

Variantes genéticas (ClinVar)

651 variantes patogênicas registradas no ClinVar.

🧬 GNE: GRCh38/hg38 9p24.3-q21.13(chr9:208455-72054336)x3 ()
🧬 GNE: GRCh38/hg38 9p24.3-13.1(chr9:208455-38787483)x3 ()
🧬 GNE: NM_005476.7:c.(1281_1282)_(1633_1634)del ()
🧬 GNE: NM_005476.7(GNE):c.446C>G (p.Ala149Gly) ()
🧬 GNE: NM_005476.7(GNE):c.527A>G (p.Asp176Gly) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 2 variantes classificadas pelo ClinVar.

1
1
Patogênica (50.0%)
VUS (50.0%)
VARIANTES MAIS SIGNIFICATIVAS
GNE: NM_001128227.3(GNE):c.51+10408_52-10008del [Pathogenic]
CD99L2: NM_031462.4(CD99L2):c.68-5755G>T [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
3Fase 37
2Fase 21
1Fase 12
·Pré-clínico9
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Miosite de corpos de inclusão

🗺️

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

🟢 Recrutando agora

8 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

129 ensaios clínicos encontrados, 15 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
980 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 980

#1

Modifying muscle metabolic dysregulation in inclusion body myositis with pioglitazone: a single-arm trial.

Nature communications2026 Mar 15

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.

#2

A 73-Year-Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping.

Annals of clinical and translational neurology2026 Jan 29

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.

#3

Immunotherapies in autoimmune inflammatory myopathies: Rationale and therapeutic updates.

Handbook of clinical neurology2026

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.

#4

Immune-Driven Expression in Inclusion Body Myositis With T-Cell Large Granular Lymphocytic Leukemia.

Annals of clinical and translational neurology2026 Jan 09

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.

#5

Muscle mitochondrial changes in antisynthetase syndrome and other idiopathic inflammatory myopathies.

Journal of neuropathology and experimental neurology2026 Mar 01

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

Ver todas no PubMed

📚 EuropePMC1.119 artigos no totalmostrando 193

2026

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 reports
2026

The clinical, serological and myopathological features of a cohort of Chinese patients with inclusion body myositis: a single center analysis.

Frontiers in immunology
2026

Prevalence and Risk of Falls and Fractures in the Idiopathic Inflammatory Myopathies: A Cross-Sectional Study of 470 Patients.

Rheumatology and therapy
2026

The Myositis Overlap Conundrum: Differentiating Polymyositis from Inclusion Body Myositis.

Juntendo medical journal
2026

Semi-quantitative analyses of muscle magnetic resonance imaging for pattern recognition in early idiopathic inflammatory myopathies.

Journal of neuromuscular diseases
2026

Fatal Cardiomyopathy Secondary to Seronegative Immune-Mediated Necrotizing Myopathy: A Case Report.

The American journal of case reports
2026

Modifying muscle metabolic dysregulation in inclusion body myositis with pioglitazone: a single-arm trial.

Nature communications
2026

Evaluation of Dysphagia in Myositis and Muscular Dystrophy Using Real-Time MRI and Quantitative Muscle Ultrasound.

Journal of cachexia, sarcopenia and muscle
2026

Lead Toxicity Masquerading as Autoimmune Haemolytic Anaemia: A Diagnostic Pitfall in Unexplained Anaemia.

Cureus
2026

Multilevel impairment of mitochondrial respiration with sex-specific signatures in inclusion body myositis.

bioRxiv : the preprint server for biology
2026

Mitochondrial abnormalities in idiopathic inflammatory myopathies.

Clinical and experimental rheumatology
2026

Improved Detection of Myositis-Specific Autoantibodies Using Luciferase Immunoprecipitation Systems Assay: Comparison with Line Blot and Conventional Immunoprecipitation.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2026

Spatial protein expression patterns across pathologically-associated fibers revealed molecular specialization in inclusion body myositis.

Cell communication and signaling : CCS
2026

Association between Oropharyngeal Dysphagia and Subgroups of Patients with Idiopathic Inflammatory Myopathy: A Cross-Sectional Study.

Dysphagia
2026

Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies.

Clinical and experimental rheumatology
2026

cN1A Antibody-Positive Inclusion Body Myositis Following Seminoma Manifesting With Slowly Progressive Paraparesis: A Case Report.

Cureus
2026

Kinematic features of dysphagia in inclusion body myositis.

Neuromuscular disorders : NMD
2026

Proteomic profiles in inclusion body myositis and polymyositis with mitochondrial pathology.

Acta neuropathologica communications
2026

Quadriceps and ankle weakness in inclusion body myositis: impact on descending balance control and rehabilitation strategies - a systematic review.

BMC musculoskeletal disorders
2026

A 73-Year-Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping.

Annals of clinical and translational neurology
2026

The Role of Imaging Techniques in the Evaluation of Extraglandular Manifestations in Patients with Sjögren's Syndrome.

Diagnostics (Basel, Switzerland)
2026

The MicroIBioM study: the gut microbiome in inclusion body myositis.

Clinical and experimental rheumatology
2026

Muscle Imaging in Inclusion Body Myositis: Refinement of MRI Criteria and Insights Into Upper Body Involvement.

Journal of cachexia, sarcopenia and muscle
2026

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus-Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies.

Muscle &amp; nerve
2026

Immunotherapies in autoimmune inflammatory myopathies: Rationale and therapeutic updates.

Handbook of clinical neurology
2026

The 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)
2026

Immune-Driven Expression in Inclusion Body Myositis With T-Cell Large Granular Lymphocytic Leukemia.

Annals of clinical and translational neurology
2025

Spatially Resolved Profiling of Compartmentalized Muscle and Brain Inflammation.

European journal of immunology
2025

Tocilizumab in the Treatment of Sporadic Inclusion Body Myositis.

International journal of rheumatic diseases
2025

[A case of gastric emphysema with intra-abdominal free air that resolved with conservative treatment].

Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology
2026

Muscle mitochondrial changes in antisynthetase syndrome and other idiopathic inflammatory myopathies.

Journal of neuropathology and experimental neurology
2025

Antisense oligonucleotides targeting valosin-containing protein ameliorate muscle pathology and molecular defects in cell and mouse models of multisystem proteinopathy.

Clinical and translational medicine
2026

Comorbidities in idiopathic inflammatory myopathies: population-based evidence on risk subgroups and implications for delivery of care.

Current opinion in rheumatology
2025

Dermatomyositis and microscopic polyangiitis overlap: a case-based review.

Rheumatology international
2025

Obturator hernia associated with inclusion body myositis: a case report.

Journal of medical case reports
2025

Case 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 medicine
2025

Altered 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)
2025

Assessment of IBM-FRS total score and specific functional domains in a large cohort of inclusion body myositis patients.

Journal of neurology
2026

Murine toxicology assessment of avgn7.2, a novel gene therapeutic for inclusion body myositis and other muscle wasting diseases.

Gene therapy
2025

Bimagrumab: Novel Medical Therapy for Inclusion Body Myositis, Sarcopenia, and Medication-Induced Lean Body Mass Loss.

Cardiology in review
2025

Unmasking Idiopathic Inflammatory Myopathy: A Case of Proximal Weakness in a Young Male With Co-Occurring Vitamin D Deficiency.

Clinical case reports
2025

Revisiting the link between oropharyngeal dysphagia and cancer in autoimmune myositis: a descriptive study.

Arthritis research &amp; therapy
2025

[A case of inclusion body myositis with childhood onset].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2026

Nailfold videocapillaroscopy abnormalities in autoimmune inflammatory myopathy subsets.

Rheumatology (Oxford, England)
2026

The PTPN22 R620W polymorphism is associated with inclusion body myositis: data from the UKMyoNet study.

Rheumatology (Oxford, England)
2025

The Mythology of Polymyositis.

Rheumatic diseases clinics of North America
2025

Emerging Treatment Options for Inclusion Body Myositis.

Rheumatic diseases clinics of North America
2025

Updates on Diagnostic Criteria of Inclusion Body Myositis.

Rheumatic diseases clinics of North America
2025

Epidemiology of Dermatomyositis and Other Idiopathic Inflammatory Myopathies in Northern Spain.

Biomedicines
2025

Concerns Regarding "Small Fiber Morphology and Function in Inclusion Body Myositis-A Multimodal Assessment Including Confocal Corneal Microscopy".

European journal of neurology
2025

A case of Inclusion Body Myositis with Isolated Dysphagia: An Earlier-stage Diagnosis Using a Surgical Specimen from Cricopharyngeal Myotomy.

Internal medicine (Tokyo, Japan)
2025

Recent advances in immunological mechanisms and murine disease models of idiopathic inflammatory myopathies.

Inflammation and regeneration
2025

Enhanced proteasome activity in perifascicular myofibres is a hallmark of dermatomyositis and its inhibition is efficient in preclinical models.

Annals of the rheumatic diseases
2026

SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights.

Annals of clinical and translational neurology
2025

Idiopathic inflammatory myopathy associated with Sjögren's disease: features of a distinct clinical entity.

Frontiers in immunology
2026

N-formyl methionine peptide-driven neutrophil activation in idiopathic inflammatory myopathies.

Rheumatology (Oxford, England)
2025

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 journal
2025

Myopathology and Immune Profile of Granulomatous Myositis in Sarcoid Myopathy.

Neuropathology and applied neurobiology
2025

Long-term oral glucocorticoid use is associated with complications, healthcare resource utilization, and costs among patients with dermatomyositis or polymyositis.

Clinical rheumatology
2025

A Scoping Review of Respiratory Dysfunction in Inclusion Body Myositis.

International journal of rheumatic diseases
2025

Dual probe ligation in situ hybridization with rolling-circle amplification for high-plex spatial transcriptomics.

Biochemistry and biophysics reports
2025

Mutual reinforcement of lymphotoxin-driven myositis and impaired autophagy in murine muscle.

Brain : a journal of neurology
2025

[Not just frailty-Sjögren's syndrome and polymyositis with mitochondrial pathology].

Zeitschrift fur Rheumatologie
2025

Prevalence and functional characterization of anti-interferon autoantibodies in inflammatory myopathies.

Rheumatology (Oxford, England)
2025

Genetics of myositis - distinct backgrounds of subtypes.

Journal of human genetics
2025

Small Fiber Morphology and Function in Inclusion Body Myositis-A Multimodal Assessment Including Confocal Corneal Microscopy.

European journal of neurology
2025

Lymphocyte Activation Gene 3 in Inclusion Body Myositis: A Novel Therapeutic Biomarker?

Muscle &amp; nerve
2025

Before 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 neurology
2025

TDP-43 pathology induces CD8+ T cell activation through cryptic epitope recognition.

bioRxiv : the preprint server for biology
2025

A Case of Anti-TIF1γ Antibody-Positive Dermatomyositis Associated With Malignancy.

Cureus
2025

The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients.

Frontiers in immunology
2025

Case Report of an Atypical Presentation of Inclusion Body Myositis Masquerading as Polymyalgia Rheumatica.

Current rheumatology reviews
2025

Coexistence 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 : IMAJ
2025

Mitochondrial pathology in inflammatory myopathies: a marker of worse clinical outcome.

Journal of neurology
2025

Expression and Site-Specific Biotinylation of Human Cytosolic 5'-Nucleotidase 1A in Escherichia coli.

Methods and protocols
2025

Infections preceding diagnosis associated with myositis phenotypes in a national patient registry.

Clinical and experimental rheumatology
2025

Treatment of idiopathic inflammatory myopathies.

Joint bone spine
2025

Cardiac involvement in established idiopathic inflammatory myopathy assessed by cardiac magnetic resonance mapping.

Clinical rheumatology
2025

Activated 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 sciences
2025

Local immunoglobulin expression in myositis is associated with interferon gamma signaling and correlates with disease activity.

medRxiv : the preprint server for health sciences
2025

LAG3 Is Expressed on Muscle-Infiltrating Cytotoxic T Cells, but Scarce on Circulating T Cells, in Patients With Inclusion Body Myositis.

Muscle &amp; nerve
2025

Ageing Signatures and Disturbed Muscle Regeneration in Muscle Proteome of Inclusion Body Myositis.

Journal of cachexia, sarcopenia and muscle
2025

Inclusion body myositis - what are new lines of pathogenesis and therapy?

Current opinion in neurology
2025

Mitochondria-centred metabolomic map of inclusion body myositis: sex-specific alterations in central carbon metabolism.

Annals of the rheumatic diseases
2025

Characterizing local antibody responses in the muscle of inclusion body myositis patients.

Journal of autoimmunity
2025

Alpha-Synuclein as a Potential Biomarker for Inclusion Body Myositis in Blood and Muscle.

Neuropathology and applied neurobiology
2025

Rheumatic manifestations of HIV/AIDS.

Best practice &amp; research. Clinical rheumatology
2025

Inclusion Body Myositis: A Case Report.

Cureus
2025

The Role of Repeat Skeletal Muscle Biopsy: Indications, Yield and Outcomes.

Muscle &amp; nerve
2025

Concurrent Inclusion Body Myositis and Late Onset Pompe Disease: A Case Report.

Muscle &amp; nerve
2025

Increased Risk of Myocardial Infarction in Inclusion Body Myositis: A Non-Concurrent Cohort Study.

European journal of neurology
2025

Interferon-γ causes myogenic cell dysfunction and senescence in immune myopathies.

Brain : a journal of neurology
2025

Autophagy in myositis, a dysregulated pathway, and a target for therapy.

Autoimmunity reviews
2025

Chronic sarcoid myopathy mimicking facioscapulohumeral muscular dystrophy: a case report.

Neuromuscular disorders : NMD
2025

Idiopathic Inflammatory Myopathies: Recent Evidence Linking Pathogenesis and Clinical Features.

International journal of molecular sciences
2025

Mitochondrial damage is associated with an early immune response in inclusion body myositis.

Brain : a journal of neurology
2025

Strapped for Strength: A Comparison Study of Dynamometry Techniques to Evaluate Knee Extensor Strength in Inclusion Body Myositis.

Muscle &amp; nerve
2025

Converging Inflammations: Simultaneous Myositis and Polyneuropathy as a Diagnostic Challenge.

Cureus
2025

The caregiver burden of idiopathic inflammatory myopathies.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation
2025

Cardiac Involvement in Idiopathic Inflammatory Myopathies.

Journal of inflammation research
2025

A systematic review and meta-analysis of the response to placebo in clinical trials of inclusion body myositis.

Rheumatology (Oxford, England)
2025

Cardiovascular events in patients with myositis: results from a French retrospective cohort.

RMD open
2025

2024 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 disease
2025

Myopathic aggregation-prone variants in the TDP-43 prion-like domain: genetics paving the way.

Brain : a journal of neurology
2025

Distinct Cytokine and Cytokine Receptor Expression Patterns Characterize Different Forms of Myositis.

medRxiv : the preprint server for health sciences
2025

Quantitative muscle magnetic resonance imaging as a biomarker for inclusion body myositis in clinical trials: exploring the in vivo effects of arimoclomol.

Clinical and experimental rheumatology
2025

Challenges in international investigator-led rare disease clinical trials and the case for optimism in inclusion body myositis.

Clinical and experimental rheumatology
2025

Optimism 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 rheumatology
2025

Ultrasensitive interferons quantification reveals different cytokine profile secretion in inflammatory myopathies and can serve as biomarkers of activity in dermatomyositis.

Frontiers in immunology
2025

Corrigendum: Applicability of a serodiagnostic line blot for idiopathic inflammatory myopathy: the muscle biopsy is not all.

Frontiers in neurology
2025

Human induced pluripotent stem cell-derived myotubes to model inclusion body myositis.

Acta neuropathologica communications
2025

Imaging evaluation of the upper limbs in inclusion body myositis: an unmet need.

Clinical and experimental rheumatology
2024

Current biomarkers in inclusion body myositis.

Journal of neuromuscular diseases
2025

Association 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 pharmacology
2025

Determining patient and carer priorities in inclusion body myositis: a patient-led research study.

Clinical and experimental rheumatology
2025

Emerging mechanisms and therapeutics in inflammatory muscle diseases.

Trends in pharmacological sciences
2025

The utility of muscle magnetic resonance imaging in idiopathic inflammatory myopathies: a scoping review.

Frontiers in immunology
2025

Retrospective analysis of US veterans with inclusion body myositis: initial findings from the Veterans Affairs Corporate Data Warehouse.

Military Medical Research
2025

Efficacy and safety of pharmacological treatments in inclusion body myositis: a systematic review.

RMD open
2024

Applicability of a serodiagnostic line blot for idiopathic inflammatory myopathy: the muscle biopsy is not all.

Frontiers in neurology
2025

Artificial intelligence models using F-wave responses predict amyotrophic lateral sclerosis.

Brain : a journal of neurology
2025

Safe and Orally Bioavailable Inhibitor of Serine Palmitoyltransferase Improves Age-Related Sarcopenia.

ACS pharmacology &amp; translational science
2025

Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression.

Orphanet journal of rare diseases
2025

Refining the clinical and therapeutic spectrum of granulomatous myositis from a large cohort of patients.

Journal of neurology
2025

[Neurology: what's new in 2024].

Revue medicale suisse
2025

The relationship between patient-reported and clinician-assessed outcome measures in Inclusion body myositis - insights from a retrospective cohort study.

Neuromuscular disorders : NMD
2025

Differentiating 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)
2025

Loss of TDP-43 Splicing Repression Occurs in Myonuclei of Inclusion Body Myositis Patients.

Annals of neurology
2025

NLRP3 Inflammasome Activation and Altered Mitophagy Are Key Pathways in Inclusion Body Myositis.

Journal of cachexia, sarcopenia and muscle
2024

Inclusion Body Myositis: A case report on navigating diagnostic challenges.

Sultan Qaboos University medical journal
2024

Clinical Significance of Abnormal Serum LGALS3BP Expression in Patients with Idiopathic Inflammatory Myopathies.

Journal of inflammation research
2024

Seeding-competent TDP-43 persists in human patient and mouse muscle.

Science translational medicine
2024

Autoantibodies against a subunit of mitochondrial respiratory chain complex I in inclusion body myositis.

Journal of autoimmunity
2025

Occupational and Hobby Exposures Associated With Myositis Phenotypes in a National Myositis Patient Registry.

Arthritis care &amp; research
2025

Inclusion body myositis and immunosenescence: current evidence and future perspectives.

Rheumatology (Oxford, England)
2024

Whole-body-electro-myostimulation for the care of inclusion body myositis-A case report.

Clinical case reports
2024

Serum creatine kinase elevation following tyrosine kinase inhibitor treatment in cancer patients: Symptoms, mechanism, and clinical management.

Clinical and translational science
2024

Inclusion Body Myositis: A Late Diagnosis Case Report.

Reumatologia clinica
2025

Inclusion body myositis: an update.

Current opinion in rheumatology
2025

Intramyocardial fatty infiltration lesion in sporadic inclusion body myositis: a case report.

The international journal of cardiovascular imaging
2024

Late-onset primary muscle diseases mimicking sarcopenia.

Geriatrics &amp; gerontology international
2025

Myositis-specific and myositis-associated autoantibodies: their clinical characteristics and potential pathogenic roles.

Immunological medicine
2024

Features of Swallowing Function in Sporadic Inclusion Body Myositis: Preliminary Evidence Using Well-Tested Assessment Frameworks.

American journal of speech-language pathology
2024

Volumetric muscle composition analysis in sporadic inclusion body myositis using fat-referenced magnetic resonance imaging: Disease pattern, repeatability, and natural progression.

Muscle &amp; nerve
2024

Recent Updates on the Pathogenesis of Inflammatory Myopathies.

Current rheumatology reports
2024

Inclusion body myositis: Correcting impaired mitochondrial and lysosomal autophagy as a potential therapeutic strategy.

Autoimmunity reviews
2024

Contribution of major histocompatibility complex class II immunostaining in distinguishing idiopathic inflammatory myopathy subgroups: A histopathological cohort study.

Journal of neuropathology and experimental neurology
2024

Pathogenic mechanisms of disease in idiopathic inflammatory myopathies: autoantibodies as clues.

Frontiers in immunology
2025

TLR7/8 Activation in Immune Cells and Muscle by RNA-Containing Immune Complexes: Role in Inflammation and the Pathogenesis of Myositis.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2024

What is in the Myopathy Literature?

Journal of clinical neuromuscular disease
2024

Construct 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 rheumatism
2024

Impact of sex, age at onset, and anti-cN1A antibodies on sporadic inclusion body myositis.

Journal of the neurological sciences
2024

Key target genes related to anti-breast cancer activity of ATRA: A network pharmacology, molecular docking and experimental investigation.

Heliyon
2024

Watch for inclusion body myositis.

Practical neurology
2024

Sporadic inclusion body myositis-derived myotube culture revealed muscle cell-autonomous expression profiles.

PloS one
2024

Patient experiences of muscle biopsy in idiopathic inflammatory myopathies: a cross-sectional survey.

Rheumatology international
2024

Anti-HMGCR myopathy: Diversity of clinical presentations in a national cohort in New Zealand.

Seminars in arthritis and rheumatism
2024

Distinct Transcript-Level Expression Profiles and Unique Alternative Splicing in Inflammatory Myopathies.

ACR open rheumatology
2024

Granulomatous myositis: characteristics and outcome from a monocentric retrospective cohort study.

Neuromuscular disorders : NMD
2024

Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study.

Journal of neuromuscular diseases
2024

Differentiating idiopathic inflammatory myopathies by automated morphometric analysis of MHC-1, MHC-2 and ICAM-1 in muscle tissue.

Neuropathology and applied neurobiology
2024

Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy.

Acta neuropathologica
2025

Measurement properties of the Inclusion Body Myositis Functional Rating Scale.

Journal of neurology, neurosurgery, and psychiatry
2024

Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.

International journal of molecular sciences
2024

Anti-HMGCR (Hydroxy-3-Methylglutaryl-CoA Reductase) Myopathy: A Rare Cause of Proximal Muscle Weakness.

Cureus
2024

Immunohistochemical expression in idiopathic inflammatory myopathies at a single center in Vietnam.

Journal of pathology and translational medicine
2024

A case of acute hypercapnic respiratory failure secondary to late onset nemaline rod myopathy: A multi-disciplinary approach.

Respiratory medicine case reports
2024

Treatment resistance in inclusion body myositis: the role of mast cells.

Neuromuscular disorders : NMD
2024

Anesthesia Spearheading Perioperative Safety Efforts in a Patient with Inclusion Body Myositis: A Case Report.

Acta medica Philippina
2024

Cell type mapping of inflammatory muscle diseases highlights selective myofiber vulnerability in inclusion body myositis.

Nature aging
2024

The prevalence, epidemiological characteristics and mortality trends of inflammatory myopathies patients in Oman: the Prevision study.

Clinical and experimental rheumatology
2024

Mitochondrial defects in sporadic inclusion body myositis-causes and consequences.

Frontiers in cell and developmental biology
2024

Autoantibody evaluation in idiopathic inflammatory myopathies.

Advances in clinical chemistry
2024

[Sporadic Inclusion Body Myositis].

Brain and nerve = Shinkei kenkyu no shinpo
2023

Systemic sclerosis associated myopathy: how to treat.

Current treatment options in rheumatology
2024

Whole-body muscle magnetic resonance imaging in inflammatory myopathy with mitochondrial pathology.

Frontiers in neurology
2024

Compound muscle action potential of whole-forearm flexors: A clinical biomarker for inclusion body myositis.

Clinical neurophysiology practice
2024

Inclusion body myositis, viral infections, and TDP-43: a narrative review.

Clinical and experimental medicine
2024

Assessing PET/CT's diagnostic accuracy in idiopathic myopathies.

Hellenic journal of nuclear medicine
2024

Diagnosing and characterizing inflammatory myopathies at an Australian tertiary public hospital: Resource utilization and direct healthcare costs.

International journal of rheumatic diseases
2024

Effect of sirolimus on muscle in inclusion body myositis observed with magnetic resonance imaging and spectroscopy.

Journal of cachexia, sarcopenia and muscle
2024

Evaluation of Neuromuscular Diseases and Complaints by Quantitative Muscle MRI.

Journal of clinical medicine
2024

Myositis-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 medicine
2024

Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.

Communications biology
2024

Quantum simulation of Pauli channels and dynamical maps: Algorithm and implementation.

PloS one
2024

Identification of distinct immune signatures in inclusion body myositis by peripheral blood immunophenotyping using machine learning models.

Clinical &amp; translational immunology
2024

Effects of sporadic inclusion body myositis on skeletal muscle fibre type specific morphology and markers of regeneration and inflammation.

Rheumatology international
2024

Interpreting a Delayed Workup of Idiopathic Inflammatory Myopathy.

Cureus
2024

Sarcopenia assessed by DXA and hand-grip dynamometer: a potential marker of damage, disability and myokines imbalance in inflammatory myopathies.

Rheumatology (Oxford, England)
2024

Impaired health-related quality of life in idiopathic inflammatory myopathies: a cross-sectional analysis from the COVAD-2 e-survey.

Rheumatology advances in practice
2024

272nd 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 : NMD
2024

Paraneoplastic myopathies.

Handbook of clinical neurology
2024

Does inspiratory muscle training improve lung function and quality of life in people with inclusion body myositis? A pilot study.

Neuromuscular disorders : NMD
Ver todos os 1.119 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

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Doenças relacionadas

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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.

  1. Modifying muscle metabolic dysregulation in inclusion body myositis with pioglitazone: a single-arm trial.
    Nature communications· 2026· PMID 41832158mais citado
  2. A 73-Year-Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping.
    Annals of clinical and translational neurology· 2026· PMID 41611645mais citado
  3. Immunotherapies in autoimmune inflammatory myopathies: Rationale and therapeutic updates.
    Handbook of clinical neurology· 2026· PMID 41526149mais citado
  4. Immune-Driven Expression in Inclusion Body Myositis With T-Cell Large Granular Lymphocytic Leukemia.
    Annals of clinical and translational neurology· 2026· PMID 41511789mais citado
  5. Muscle mitochondrial changes in antisynthetase syndrome and other idiopathic inflammatory myopathies.
    Journal of neuropathology and experimental neurology· 2026· PMID 41364196mais citado
  6. The NORAD-Pumilio regulatory axis in the evolution of inclusion body myositis.
    J Neuropathol Exp Neurol· 2026· PMID 41991167recente
  7. Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent.
    Ann Indian Acad Neurol· 2026· PMID 41952243recente
  8. Evaluating ChatGPT's advice and recommendations regarding exercise for people with inclusion body myositis.
    Neuromuscul Disord· 2026· PMID 41950577recente
  9. A New Immunofluorescence Assay Allows the Sensitive Detection of Anti-Cytosolic 5'-Nucleotidase 1A Autoantibodies.
    Eur J Immunol· 2026· PMID 41906624recente
  10. 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.
    Mod Rheumatol Case Rep· 2026· PMID 41874427recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:611(Orphanet)
  2. OMIM OMIM:147421(OMIM)
  3. MONDO:0007827(MONDO)
  4. GARD:3896(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. 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

Miosite de corpos de inclusão
Compêndio · Raras BR

Miosite de corpos de inclusão

ORPHA:611 · MONDO:0007827
Prevalência
1-9 / 1 000 000
Herança
Not applicable
CID-10
M60.8 · Outras miosites
CID-11
Ensaios
15 ativos
Início
Adult, Elderly
Prevalência
0.5 (Europe)
MedGen
UMLS
C0238190
EuropePMC
Wikidata
Wikipedia
Papers 10a
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