Table 1.
Demographic and clinical characteristics of SMA patients
Pt No | Sex/age (Year) | SMA type | SMN2 copy | Age at symptom onset | Age at diagnosis (month) | Disease duration (month) | Scoliosis | Hip dislocation | Joint contracture | Respiratory status | Nutrition |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | F/0.2 | 1 | 2 | 15 d | 1 | 0.5 | - | - | - | NIV <8 h/d | OF |
2 | F/0.3 | 1 | 2 | 7 d | 1.4 | 1.0 | - | - | - | NIV <8 h/d | OF |
3 | F/3.1 | 1 | 2 | 5 m | 6 | 14 | - | - | - | 24-h IMV | EF |
4 | M/5.5 | 1 | 2 | 1 m | 3 | 43 | + | - | + | 24-h IMV | EF |
5 | F/4.6 | 2 | 3 | 9 m | 24 | 37 | - | - | - | SB | OF |
6 | M/9.3 | 2 | 3 | 8 m | 8 | 98 | - | + | + | SB | OF |
7 | M/22.6 | 2 | 3 | 15 m | 23 | 254 | + | + | + | SB | OF |
EF–enteral feeding; NIV–noninvasive ventilation; IMV–invasive mechanical ventilation; OF–oral feeding; SB–spontaneous breathing; SMA–spinal muscular atrophy; SMN2–survival motor neuron 2