Department of Neurology, Turku University Central Hospital, Turku, Finland.
Neuromuscul Disord. 2012 Feb;22(2):129-30. doi: 10.1016/j.nmd.2011.07.011. Epub 2011 Aug 20.
Autosomal recessive proximal spinal muscular atrophy is caused by deletions in the survival of motor neuron (SMN1) gene, while autoimmune myasthenia gravis is an acquired disorder. An association between these two diseases has not been reported. Our patient with intermediate spinal muscular atrophy (SMA type II) did not need alimentary or respiratory aid until age 51 when he suddenly developed bulbar weakness and respiratory insufficiency. Seropositive myasthenia gravis was confirmed and the corresponding symptoms resolved on treatment.
常染色体隐性进行性近端脊肌萎缩症是由运动神经元存活基因（SMN1）缺失引起的，而重症肌无力是一种获得性疾病。这两种疾病之间没有关联的报道。我们的中间型脊肌萎缩症（SMA 型 II 型）患者直到 51 岁时才需要进食或呼吸辅助，当时他突然出现球部无力和呼吸功能不全。血清阳性重症肌无力得到确诊，经治疗后相应症状得到缓解。
