Duchenne肌营养不良合并脊柱畸形的围手术期管理一例

Perioperative Management of Duchenne Muscular Dystrophy and Accompanying Spinal Deformity: a Case Report

  • 摘要: Duchenne肌营养不良(Duchenne muscular dystrophy, DMD)是由抗肌萎缩蛋白基因突变导致的X染色体连锁隐性遗传病,是一种罕见的先天性肌肉疾病。临床表现包括进行性骨骼肌无力,可累及呼吸肌和心肌,常合并脊柱畸形。本文报道了1例多系统受累的严重脊柱侧凸DMD患者的诊断过程、围手术期管理及随访情况,以期为临床医师诊治此类疾病提供参考。

     

    Abstract: Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder caused by mutations in the dystrophin gene, classified as a rare congenital muscular disease. Its clinical features include progressive skeletal muscle weakness, often involving respiratory and cardiac muscles, and frequently associated with spinal deformities. This paper reports the diagnosis, perioperative management, and follow-up of a case of DMD with multisystem involvement and severe scoliosis, aiming to provide a reference for clinicians in the diagnosis and treatment of such diseases.

     

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