Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy

Abstract Objective Limb-girdle muscular dystrophy (LGMD) is usually confused with idiopathic inflammatory myopathy (IIM) in clinical practice. Our study aimed to establish convenient and reliable diagnostic models for distinguishing between LGMD and IIM. Methods A total of 71 IIM patients, 24 LGMDR2...

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Main Authors: Guangyu Wang, Lijun Fu, Lining Zhang, Kai Shao, Ying Hou, Tingjun Dai, Pengfei Lin, Chuanzhu Yan, Bing Zhao
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Arthritis Research & Therapy
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Online Access:https://doi.org/10.1186/s13075-024-03458-8
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author Guangyu Wang
Lijun Fu
Lining Zhang
Kai Shao
Ying Hou
Tingjun Dai
Pengfei Lin
Chuanzhu Yan
Bing Zhao
author_facet Guangyu Wang
Lijun Fu
Lining Zhang
Kai Shao
Ying Hou
Tingjun Dai
Pengfei Lin
Chuanzhu Yan
Bing Zhao
author_sort Guangyu Wang
collection DOAJ
description Abstract Objective Limb-girdle muscular dystrophy (LGMD) is usually confused with idiopathic inflammatory myopathy (IIM) in clinical practice. Our study aimed to establish convenient and reliable diagnostic models for distinguishing between LGMD and IIM. Methods A total of 71 IIM patients, 24 LGMDR2 patients and 22 LGMDR1 patients diagnosed at our neuromuscular center were enrolled. Differences in clinical, laboratory and histopathological characteristics were comprehensively compared. A nomogram and a decision tree were developed to distinguish between LGMD and IIM patients. Results Compared to patients with LGMD, IIM patients exhibited a significantly older age of onset, a higher prevalence of cervical flexor weakness and a more commonly diffuse MHC-I expression on muscle pathology. The ratio of synchronous serum myoglobin (Mb, ng/ml) to creatine kinase (CK, U/L) before immunotherapy was significantly higher in IIM patients than in LGMD patients. Receiver operating characteristic analysis indicated a high differential diagnostic efficiency of synchronous Mb/CK with a cutoff value of 0.18. A nomogram prediction model and a decision tree were developed based on four independent indicators (age of onset, cervical flexor weakness, synchronous Mb/CK and diffuse MHC-I expression). Five-fold cross-validation and bootstrapping techniques substantiated the discriminate efficacy of the nomograph and decision tree. Conclusion We developed two practical differential diagnosis models for LGMD and IIM based on the analysis of four accessible indicators, including the age of onset, cervical flexor weakness, the ratio of synchronous Mb/CK values and diffuse MHC-I expression. Further studies with larger samples are needed to refine the predictive efficiency of the differential diagnostic models.
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spelling doaj-art-9ee45f916ee1428ebd6bc4fe0d54c4cb2025-08-20T01:57:16ZengBMCArthritis Research & Therapy1478-63622024-12-0126111110.1186/s13075-024-03458-8Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathyGuangyu Wang0Lijun Fu1Lining Zhang2Kai Shao3Ying Hou4Tingjun Dai5Pengfei Lin6Chuanzhu Yan7Bing Zhao8Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong UniversitySchool of Finance, Southwestern University of Finance and EconomicsDepartment of Rheumatology, Qilu Hospital of Shandong UniversityDepartment of Central Laboratory, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong UniversityDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong UniversityDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong UniversityDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong UniversityDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong UniversityDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong UniversityAbstract Objective Limb-girdle muscular dystrophy (LGMD) is usually confused with idiopathic inflammatory myopathy (IIM) in clinical practice. Our study aimed to establish convenient and reliable diagnostic models for distinguishing between LGMD and IIM. Methods A total of 71 IIM patients, 24 LGMDR2 patients and 22 LGMDR1 patients diagnosed at our neuromuscular center were enrolled. Differences in clinical, laboratory and histopathological characteristics were comprehensively compared. A nomogram and a decision tree were developed to distinguish between LGMD and IIM patients. Results Compared to patients with LGMD, IIM patients exhibited a significantly older age of onset, a higher prevalence of cervical flexor weakness and a more commonly diffuse MHC-I expression on muscle pathology. The ratio of synchronous serum myoglobin (Mb, ng/ml) to creatine kinase (CK, U/L) before immunotherapy was significantly higher in IIM patients than in LGMD patients. Receiver operating characteristic analysis indicated a high differential diagnostic efficiency of synchronous Mb/CK with a cutoff value of 0.18. A nomogram prediction model and a decision tree were developed based on four independent indicators (age of onset, cervical flexor weakness, synchronous Mb/CK and diffuse MHC-I expression). Five-fold cross-validation and bootstrapping techniques substantiated the discriminate efficacy of the nomograph and decision tree. Conclusion We developed two practical differential diagnosis models for LGMD and IIM based on the analysis of four accessible indicators, including the age of onset, cervical flexor weakness, the ratio of synchronous Mb/CK values and diffuse MHC-I expression. Further studies with larger samples are needed to refine the predictive efficiency of the differential diagnostic models.https://doi.org/10.1186/s13075-024-03458-8Necrotizing myopathyIdiopathic inflammatory myopathyLimb-girdle muscular dystrophyMyoglobinCreatine kinase
spellingShingle Guangyu Wang
Lijun Fu
Lining Zhang
Kai Shao
Ying Hou
Tingjun Dai
Pengfei Lin
Chuanzhu Yan
Bing Zhao
Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy
Arthritis Research & Therapy
Necrotizing myopathy
Idiopathic inflammatory myopathy
Limb-girdle muscular dystrophy
Myoglobin
Creatine kinase
title Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy
title_full Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy
title_fullStr Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy
title_full_unstemmed Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy
title_short Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy
title_sort development of differential diagnostic models for distinguishing between limb girdle muscular dystrophy and idiopathic inflammatory myopathy
topic Necrotizing myopathy
Idiopathic inflammatory myopathy
Limb-girdle muscular dystrophy
Myoglobin
Creatine kinase
url https://doi.org/10.1186/s13075-024-03458-8
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