Table 1.
Characteristics of LOPD patients and healthy volunteers
| HV n = 10 | LOPD n = 10 | |
|---|---|---|
| Female, (%) | 5 (50) | 5 (50) |
| Male (%) | 5 (50) | 5 (50) |
| Age, years | 41.2 ± 14.2 | 40.6 ± 12.1 |
| Weight, kg | 73.9 ± 11.9 | 65.0 ± 17.3 |
| Height, cm | 176.2 ± 0.1 | 172.3 ± 0.1 |
| BMI (kg/m2) | 23.6 ± 2.2 | 21.6 ± 4.0 |
| Ambulatory (%) | 10 (100) | 9 (90) |
| ERT (%) | 0 (0) | 8 (80) |
| Nocturnal ventilation support | 0 (0) | 4 (40) |
| Lung function | ||
| FEV1 (%) | 100.8 ± 11.8 | 68.2 ± 23.5 |
| FVC (%) | 104.9 ± 9.7 | 62.6 ± 21.4 |
| Functional testing | ||
| R-PACT | 36.0 ± 0.0 | 29.1 ± 10.4 |
| QMFT | 64 ± 0.0 | 46.7 ± 16.1 |
| 6MWT (m) | 671.3 ± 116.6 | 560.3 ± 87.2 |
| TUAG (s) | 1.7 ± 0.4 | 3.7 ± 3.0 |
| MRC | ||
| UB | ||
| Proximal | 5.0 ± 0.0 | 4.3 ± 0.1 |
| Medial | 5.0 ± 0.0 | 4.5 ± 0.1 |
| Distal | 5.0 ± 0.0 | 4.7 ± 0.0 |
| LW | ||
| Proximal | 5.0 ± 0.0 | 3.9 ± 0.1 |
| Medial | 5.0 ± 0.0 | 4.1 ± 0.1 |
| Distal | 5.0 ± 0.0 | 4.5 ± 0.1 |
Values are mean ± standard deviation (SD).
LOPD late-onset Pompe disease, HV healthy volunteer, BMI body mass index, ERT enzyme replacement therapy, FEV1 forced expiratory volume, FVC functional vital capacity, R-Pact Rasch-built Pompe-specific activity score, QMFT quick motor function test, 6MWT 6-min walking test, TUAG timed up-and-go test, MRC Medical Research Council score, UB upper body, LB lower body, SD standard deviation.