Variable | Patients with SMA (n = 28) |
---|---|
Age (years) | 25.29 ± 8.95 |
Sex (male/female) | 16/12 |
BMI (kg/m2) | 19.95 ± 3.75 |
Disease duration (years) | 19.46 ± 7.98 |
SMA type (3/4) | 27/1 |
SMN2 copy number (3/>3) | 11/17 |
 Number = 3 | 11 |
 Number = 4 | 16 |
 Number = 5 | 1 |
Ambulant (yes/no) | 16/12 |
HFMSE | 34.75 ± 24.78 |
RULM | 31.50 (14.00-35.75) |
6MWT (m) | 16, 300.13 ± 151.15 |
BI | 67.50 (36.25–83.75) |
FVC (n, %) | 15, 86.80 ± 15.90 |
CK (u/L) | 196.00 (87.25–358.50) |
Log10 CK (u/L) | 2.34 ± 0.41 |
Cr (umol/L) | 26.18 ± 11.79 |
Cystatin (mg/L) | 0.89 ± 0.11 |
CCR | 29.40 ± 12.57 |