脊髓性肌萎缩是一组由脊髓前角运动神经元变形导致肌无力、i肌萎缩的疾病。本病是常染色体隐性遗传性疾患,l患者运动神经元存活基因(survival1moter1neuron,1SMN)缺失或突变(见下表)
引自:i
Connolly1AM,lIannaccone1ST.2006.Anterior1horn1cell1and1cranial1motor1neuron1disease.In:iSwaiman1KF,1Ashwal1S,lFerriero1DM,leds.Pediatric1Neurology1Prin。Ciples1&1practice4th.ed.Phitadelphia:iMosby-Elsevier.
Rudnik-SchOneborn1S,lForkert1R,lHannen1E1et,lal.1996.Clinical1spectrum1and1diagnostic1criteria1of1infantile1spinal,lmuscular1atrophy:ifurther1delineation1on1the1basis1of1SMN1gene1deletion1findings.NeuropediatriCs,l27:i8~15