Michael P. Skolka , Iago Pinal-Fernandez , Andrew L. Mammen , Teerin Liewluck
{"title":"免疫介导坏死性肌病(IMNM)新出现的非典型临床病理表现","authors":"Michael P. Skolka , Iago Pinal-Fernandez , Andrew L. Mammen , Teerin Liewluck","doi":"10.1016/j.nmd.2025.105363","DOIUrl":null,"url":null,"abstract":"<div><div>Immune-mediated necrotizing myopathy (IMNM) is an autoimmune myopathy typically characterized by a subacute-onset, rapidly progressive proximal predominant weakness, markedly elevated creatine kinase (CK) levels, and myopathological features of necrotic and regenerating fibers with minimal or no lymphocytic infiltration. IMNM can be associated with anti-HMGCR and anti-SRP antibodies. Expediting a diagnosis and beginning treatment with immunotherapy is important as early treatment can improve patient symptoms and outcomes. Notably, recent evidence has revealed several atypical clinical and histopathologic phenotypes of IMNM, which can make recognizing this treatable disease challenging. There are reports of seropositive IMNM patients exhibiting a chronic and slowly progressive course of weakness, resembling limb-girdle muscular dystrophy, as well as isolated dysphagia, prominent oculobulbar involvement, or facioscapulohumeral muscular dystrophy-like phenotype. Some patients may present in presymptomatic stages with asymptomatic hyperCKemia. Myopathological findings of IMNM have also expanded to encompass features including tubular aggregates, myofibrillar pathology, mitochondrial myopathy, excessive lipid cumulation, and megaconial pathology. The aim of this review is to highlight these unusual clinical and histopathologic presentations of IMNM, as recognizing these atypical features of IMNM is crucial to expedite diagnosis, initiate appropriate immunotherapies, and improving prognosis in this treatable myopathy.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"50 ","pages":"Article 105363"},"PeriodicalIF":2.7000,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Emerging atypical clinicopathological manifestations of immune-mediated necrotizing myopathy (IMNM)\",\"authors\":\"Michael P. Skolka , Iago Pinal-Fernandez , Andrew L. Mammen , Teerin Liewluck\",\"doi\":\"10.1016/j.nmd.2025.105363\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Immune-mediated necrotizing myopathy (IMNM) is an autoimmune myopathy typically characterized by a subacute-onset, rapidly progressive proximal predominant weakness, markedly elevated creatine kinase (CK) levels, and myopathological features of necrotic and regenerating fibers with minimal or no lymphocytic infiltration. IMNM can be associated with anti-HMGCR and anti-SRP antibodies. Expediting a diagnosis and beginning treatment with immunotherapy is important as early treatment can improve patient symptoms and outcomes. Notably, recent evidence has revealed several atypical clinical and histopathologic phenotypes of IMNM, which can make recognizing this treatable disease challenging. There are reports of seropositive IMNM patients exhibiting a chronic and slowly progressive course of weakness, resembling limb-girdle muscular dystrophy, as well as isolated dysphagia, prominent oculobulbar involvement, or facioscapulohumeral muscular dystrophy-like phenotype. Some patients may present in presymptomatic stages with asymptomatic hyperCKemia. Myopathological findings of IMNM have also expanded to encompass features including tubular aggregates, myofibrillar pathology, mitochondrial myopathy, excessive lipid cumulation, and megaconial pathology. The aim of this review is to highlight these unusual clinical and histopathologic presentations of IMNM, as recognizing these atypical features of IMNM is crucial to expedite diagnosis, initiate appropriate immunotherapies, and improving prognosis in this treatable myopathy.</div></div>\",\"PeriodicalId\":19135,\"journal\":{\"name\":\"Neuromuscular Disorders\",\"volume\":\"50 \",\"pages\":\"Article 105363\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2025-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neuromuscular Disorders\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0960896625000902\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuromuscular Disorders","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0960896625000902","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Emerging atypical clinicopathological manifestations of immune-mediated necrotizing myopathy (IMNM)
Immune-mediated necrotizing myopathy (IMNM) is an autoimmune myopathy typically characterized by a subacute-onset, rapidly progressive proximal predominant weakness, markedly elevated creatine kinase (CK) levels, and myopathological features of necrotic and regenerating fibers with minimal or no lymphocytic infiltration. IMNM can be associated with anti-HMGCR and anti-SRP antibodies. Expediting a diagnosis and beginning treatment with immunotherapy is important as early treatment can improve patient symptoms and outcomes. Notably, recent evidence has revealed several atypical clinical and histopathologic phenotypes of IMNM, which can make recognizing this treatable disease challenging. There are reports of seropositive IMNM patients exhibiting a chronic and slowly progressive course of weakness, resembling limb-girdle muscular dystrophy, as well as isolated dysphagia, prominent oculobulbar involvement, or facioscapulohumeral muscular dystrophy-like phenotype. Some patients may present in presymptomatic stages with asymptomatic hyperCKemia. Myopathological findings of IMNM have also expanded to encompass features including tubular aggregates, myofibrillar pathology, mitochondrial myopathy, excessive lipid cumulation, and megaconial pathology. The aim of this review is to highlight these unusual clinical and histopathologic presentations of IMNM, as recognizing these atypical features of IMNM is crucial to expedite diagnosis, initiate appropriate immunotherapies, and improving prognosis in this treatable myopathy.
期刊介绍:
This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies).
The Editors welcome original articles from all areas of the field:
• Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery).
• Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics.
• Studies of animal models relevant to the human diseases.
The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.