Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 (LGMDR2)

常染色体隐性肢带型肌营养不良2型(来自ICD-11)

别称:

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2s

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmdr2

Lgmd3

Autosomal Recessive Muscular Dystrophy Due to Torsin-1a-Interacting Protein 1 Deficiency

Muscular Dystrophy with Progressive Weakness, Distal Contractures and Rigid Spine

Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency

Autosomal Recessive Muscular Dystrophy Due to Lap1b Deficiency

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dystrophy, Muscular, Limb-Girdle, Type 2b

Muscular Dystrophy, Limb-Girdle, Type 2e

Muscular Dystrophy, Limb-Girdle, Type 2y

Limb-Girdle Muscular Dystrophy, Type 2e

Limb-Girdle Muscular Dystrophy 2b

Lgmd2e

Lgmd2s

Lgmd2y

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

肌肉萎缩性侧索硬化症，肢带型，常染色体隐性2型，也被称为β-肌糖蛋白病，与常染色体隐性肌病，脊柱僵硬和远端关节挛缩，以及肌肉萎缩性侧索硬化症，肢带型，常染色体隐性18型有关，症状包括共济失调、舞蹈病和肌肉痉挛。与肌肉萎缩性侧索硬化症，肢带型，常染色体隐性2型相关的基因是DYSF（肌钙蛋白），其相关通路/超级通路包括DREAM抑制和杜氏海马表达和急性病毒性心肌炎。在该疾病的背景下，已提到的药物有地塞米松和免疫抑制剂。相关组织包括骨骼肌和单核细胞，相关表型为骨骼肌萎缩和循环肌酸激酶浓度升高。

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