成人型脊髓性肌萎缩症1例

One case report of spinal muscular atrophy

脊髓性肌萎缩(SMA)是一种由于脊髓前角细胞损伤导致的常染色体隐性遗传性神经肌肉疾病。这种疾病是由生存运动神经元1(SMN1)基因的纯合突变引起的。该病的临床表现包括运动迟缓、肌张力降低、近端肌萎缩。本文通过报道1例入住同济大学附属第十人民医院治疗的成人型SMA病例,复习相关文献,对其临床表现、电生理、影像学检查及鉴别诊断进行探讨。

Spinal muscular atrophy（SMA） is an autosomal recessive neuromuscular disease that involves loss of anterior horn cells in the spinal cord. This disease is caused by homozygous mutations of the survival motor neuron 1（SMN1） gene. Common features include motor delays, low muscle tone, proximal muscle weakness. This article reports an adult patient with SMA treated in the Tenth People＇s Hospital of Tongji University, reviews the related literature,and discusses the clinical manifestations, electromyography, imageological examination and analyzes the differential diagnosis.