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A Patient With Late-onset Limb-girdle Muscular Dystrophy Type 2B Mimicking Dermatomyositis: A Case Report and Review

Journal of Rheumatic Diseases 2021년 28권 2호 p.101 ~ 106
김민정, 오윤정, 홍윤호, 박성혜, 오지선, 김민정, 채종희, 신기철,
소속 상세정보
김민정 ( Kim Min-Jung ) - Seoul Metropolitan Government-Seoul National University Boramae Medical Center Division of Rheumatology
오윤정 ( Oh Yoon-Jeong ) - Kangwon National University School of Medicine Department of Internal Medicine
홍윤호 ( Hong Yoon-Ho ) - Seoul Metropolitan Government-Seoul National University Boramae Medical Center Department of Neurology
박성혜 ( Park Sung-Hye ) - Seoul National University College of Medicine Department of Pathology
오지선 ( Oh Ji-Seon ) - University of Ulsan College of Medicine Asan Medical Center Clinical Research Center
김민정 ( Kim Min-Jung ) - Seoul National University College of Medicine Seoul National University Children’s Hospital Department of Pediatrics
채종희 ( Chae Jong-Hee ) - Seoul National University College of Medicine Seoul National University Children’s Hospital Department of Pediatrics
신기철 ( Shin Ki-Chul ) - Seoul Metropolitan Government-Seoul National University Boramae Medical Center Division of Rheumatology

Abstract


Limb-Girdle Muscular Dystrophy 2B (LGMD2B) presents with proximal and/or distal muscle weakness and markedly high creatine kinase level. It is caused by the loss of dysferlin due to mutations in the DYSF gene. Due to its similar clinical features as inflammatory myopathy, it is often difficult to distinguish between the two. We present a case of a 48-year-old male who developed progressive proximal muscle weakness, papulosquamous lesions on the knuckles, elevated levels of muscle enzymes, and electromyogram abnormalities. Based on the clinical presentation, the initial impression was dermatomyositis, yet it was refractory to immunosuppressive therapy. Subsequently, dysferlin immunostaining and genetic analysis led to the final diagnosis of LGMD2B. This case shows that LGMD2B can present with extramuscular symptoms mimicking inflammatory myopathy in later stages of life. Dysferlin immunostaining and/or genetic analysis of the DYSF gene are essential for its diagnosis.

키워드

Muscular dystrophies; Limb-girdle; Dermatomyositis

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