少年型脊肌萎缩症(spinal muscular atrophy,SMA)是脊肌萎缩症的一个亚型,由Kugelberg Welander(1956年)首次报道,是一种常染色体隐性遗传性疾病,临床少见,容易与肌营养不良混淆。现报道一家系如下。例1 女性(先证者,Ⅲ2),10岁,冈进行性双下肢无力7 年,2005年2月28日来我院就诊,以进行性肌营养不良收入 Spinal muscular atrophy (SMA), a subtype of spinal muscular atrophy, was first reported by Kugelberg Welander (1956) as an autosomal recessive disease that is clinically uncommon and prone to be associated with muscle Malnutrition is confused. Now reported a family as follows. Example 1 female (proband, Ⅲ 2), 10 years old, Gang progressive lower extremity weakness 7 years, February 28, 2005 to our hospital for treatment of muscular dystrophy income