Evidence map›Paper›PMID 42411733›Full record

ArticleRevista de neurologia2026

Anti-Melanoma Differentiation-Associated Gene 5 Antibody-Positive Juvenile Dermatomyositis Presenting With Predominant Joint Contractures.

Qiyun Liu, Ke Zheng, Ruifang Bai, Qiaoqiao Cui, Lizhen Wang, Jianli Wang, Dan Liu, Juan Wang, Wei Zhang, Xueli Chang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Revista de neurologia, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Qiyun LiuDepartment of Neurology, The First Hospital of Shanxi Medical University, 030001 Taiyuan, Shanxi, China.
Ke ZhengDepartment of Neurology, The First Hospital of Shanxi Medical University, 030001 Taiyuan, Shanxi, China.
Ruifang BaiDepartment of Neurology, The First Hospital of Shanxi Medical University, 030001 Taiyuan, Shanxi, China.
Qiaoqiao CuiDepartment of Neurology, The First Hospital of Shanxi Medical University, 030001 Taiyuan, Shanxi, China.
Lizhen WangDepartment of Neurology, The First Hospital of Shanxi Medical University, 030001 Taiyuan, Shanxi, China.
Jianli WangDepartment of Neurology, The First Hospital of Shanxi Medical University, 030001 Taiyuan, Shanxi, China.
Dan LiuDepartment of Neurology, The First Hospital of Shanxi Medical University, 030001 Taiyuan, Shanxi, China.
Juan WangDepartment of Neurology, The First Hospital of Shanxi Medical University, 030001 Taiyuan, Shanxi, China.
Wei ZhangDepartment of Neurology, The First Hospital of Shanxi Medical University, 030001 Taiyuan, Shanxi, China.
Xueli ChangDepartment of Neurology, The First Hospital of Shanxi Medical University, 030001 Taiyuan, Shanxi, China.

Funding

Fundamental Research Program of Shanxi Province 202403021221288Shanxi Province Higher Education "Billion Project" Science and Technology Guidance Project BYJL011
6 · The paper itself

Abstract

introductionAnti-melanoma differentiation-associated gene 5 (MDA5) positive juvenile dermatomyositis (JDM) (anti-MDA5+ JDM) is a distinct subtype of JDM characterized by marked clinical heterogeneity. Although cutaneous manifestations and interstitial lung disease (ILD) are well recognized, atypical musculoskeletal presentations may lead to diagnostic delay. CLINICAL CASE: We report a 16-year-old male with anti-MDA5+ JDM who presented with progressive joint contractures as the predominant manifestation over a 2-year period. The patient also exhibited restricted mouth opening, with a classical dermatomyositis (DM) cutaneous rash absent or only mild, and proximal muscle weakness, mild to moderate. Laboratory evaluation revealed high-titer anti-MDA5 antibodies and a markedly elevated serum immunoglobulin E (IgE) level. Magnetic resonance imaging (MRI) demonstrated periarticular and soft-tissue involvement, and muscle biopsy confirmed pathological features consistent with DM. Treatment with systemic glucocorticoids in combination with methotrexate resulted in substantial improvement in joint mobility, with good tolerability during follow-up.

conclusionsProgressive contractures can occasionally become the predominant presenting manifestation in anti-MDA5+ JDM and contribute to diagnostic delay. This case underscores the importance of early evaluation for idiopathic inflammatory myopathies (IIM), including myositis-specific antibody (MSA) testing and muscle biopsy, in adolescents with unexplained progressive joint contractures.

Indexed as

AutoantibodiesContractureDermatomyositisInterferon-Induced Helicase, IFIH1AdolescentHumansMagnetic Resonance ImagingMaleAutoantibodiesIFIH1 protein, humanInterferon-Induced Helicase, IFIH1autoantibodiescase reportscontracturejuvenile dermatomyositismelanoma differentiation-associated gene 5

Identifiers

PMID42411733
PMCPMC13339786

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