From: New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy
General and clinical characteristics | N (%) |
---|---|
All children | 141 (100Â %) |
Gender | |
 Boy | 88 (62.41) |
 Girl | 53 (37.59) |
Age | |
  < 6 m | 60 (42.55) |
 7-18 m | 45 (31.91) |
  > 18 m | 36 (25.53) |
Clinical characteristics | |
 Congenital heart disease | 11 (7.80) |
 Respiratory failure | 14 (9.93) |
 Muscular atrophy | 38 (26.95) |
 EMG abnormalities | 117 (82.98) |
 Disorder on sitting/standing/walking | 64 (45.39)/39 (27.66)/29 (20.57) |
Prenatal | |
 Ultrasonography abnormalities | 3 (2.13) |
 Decreased fetal movement | 6 (4.26) |
Creatine kinase value | |
 Normal | 50 (35.46) |
 Elevation | 91 (64.54) |
Diseases | |
 SMA | 75 |
 DMD/BMD | 59 |
 ME | 6 |
 CMT | 1 |