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３０例脊肌萎缩症（ＳＭＡ），其中Ⅰ型１３例，Ⅱ型１７例。临床表现肢体及躯干进行性对称性肌无力及肌萎缩，合并肋间肌麻痹及肌束震颤。血清肌酸磷酸肌酶（ＣＰＫ）４３～２９０ＩＵ／Ｌ。肌电图（ＥＭＧ）特点：静止状态可见纤颤正向电位，轻收缩时运动单位电位时限增宽，重收缩时为单纯相。肌活检可见萎缩肌纤维及正常肌纤维相间分布，周边可见肥大肌纤维，Ⅰ型病例可见成群或成束状萎缩肌纤维。单链构象多态性（ＳＳＣＰ）检测患儿和父母及无亲缘关系的正常人运动神经元存活基因（ＳＭＮ）外显子７缺失。结果：３０例ＳＭＡ中纯合缺失Ⅰ型１１例，Ⅱ型１３例，总缺失率为８０％。患儿父母及正常人共６８例，其中１例患儿母亲为纯合缺失，其余均无纯合缺失。
30 cases of spinal muscular atrophy (SMA), including 13 cases of type I, 17 cases of type II. Clinical manifestations of limbs and trunk progressive symmetry, muscle weakness and muscle atrophy, intercostal muscle paralysis and fasciculation. Serum creatine phosphokinase (CPK) 43 ~ 290IU / L. Electromyography (EMG) features: quiescent state shows fibrillation positive potential, light contraction of the motor unit potential time widening, when the contraction is simple phase. Muscle biopsy showed atrophy muscle fiber and normal muscle fiber phase distribution, the surrounding visible hypertrophic muscle fibers, type Ⅰ cases can be seen in groups or bundles of atrophy muscle fibers. Single strand conformation polymorphism (SSCP) was used to detect the deletion of exon 7 of motor neuron survivin gene (SMN) in children and parents and unrelated normal subjects. Results: The homozygous deletion in 30 cases of type I was found in 11 cases and in type II in 13 cases, with a total loss rate of 80%. A total of 68 children with parents and normal children, including 1 case of mothers with homozygous deletion, the rest were no homozygous deletion.