Table 2 The general and clinical characteristics of children in different subtypes of SMA
From: New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy
|  | Type I (%) (n = 41) | Type II (%) (n = 29) | Type III (%) (n = 5) | Total (%) (n = 75) | P Value* |
|---|---|---|---|---|---|
Gender* | |||||
 Boy | 24 (58.54) | 19 (65.52) | 3 (60) | 46 (61.33) |  |
 Girl | 17 (41.46) | 10 (34.48) | 2 (40) | 29 (38.67) |  |
Clinical symptoms* | |||||
 Congenital heart disease | 3 (7.32) | 0 | 0 | 3 (4) | 0.5137 |
 Respiratory failure | 6 (14.63) | 2 (6.90) | 0 | 8 (10.67) | 0.7308 |
 Muscular atrophy | 20 (48.78) | 13 (44.83) | 2 (40) | 35 (46.67) | 0.9835 |
 EMG abnormalities | 39 (95.12) | 28 (96.55) | 4 (80) | 71 (94.67) | 0.4405 |
Prenatal* | |||||
 Ultrasonography abnormalities | 0 | 0 | 0 | 0 | - |
 Decreased fetal movement | 3 (7.32) | 2 (6.90) | 0 | 5 (6.67) | 1.0000 |
CK value* | |||||
 Normal | 6 (14.63) | 8 (27.59) | 2 (40) | 16 (21.33) | 0.3391 |
 Elevation | 35 (85.37) | 21 (72.41) | 3 (60) | 59 (78.67) |  |
Molecular detection | |||||
 Homozygous mutation at c.840 C > T in SMN gene | 40 (97.56) | 26 (89.66) | 5 (100) | 71 (94.67) |  |
 Deletion of NAIP exon4 and 5 | 6 (14.63) | 0 | 0 | 6 (8) |  |
 Deletion of NAIP exon4 | 3 (7.32) | 0 | 0 | 3 (4) |  |
 Deletion of GTF2H2 exon10 | 2 (4.88) | 1 (3.45) | 0 | 3 (4) |  |