Patient 1 | Patient 2 | Patient 3 | ||||
---|---|---|---|---|---|---|
Before ERT | After ERT | Before ERT | After ERT | Before ERT | After ERT | |
6MWD,a m | 50d | 300 | 265 | 425 | 175f | 290e |
Height, cm (percentileb) | 161.4 (25) | 165.3 (7) | 137.5 (44) | 153.1 (43) | 97.0 (60) | 117.2 (74) |
Weight, kg (percentileb) | 50.8 (39) | 65.3 (51) | 27.9 (21) | 37.1 (20) | 16.6 (87) | 27.3 (98) |
BMI, kg/cm2 (percentileb) | 19.5 (48) | 23.9 (78) | 14.8 (11) | 15.8 (11) | 17.6 (91) | 19.9 (99) |
Joint ROM, a degrees | ||||||
Hip abduction | R: 10 | R: 20e | R: 20 | – | – | R: 55 |
L: 15 | L: 20e | L: 20 | L: 55 | |||
Hip internal rotation | R: 10 | R: 10e | R: 30 | R: 40e | – | R: 60 |
L: 5 | L: 15e | L: 30 | L: 10e | L: 60 | ||
Knee extension | R: − 35 | R: − 20 | – | R: 0 | – | R: 0 |
L: − 55 | L: − 30 | L: − 15 | L: 0 | |||
Ankle dorsiflexion with knee flexed | R: 8 | R: 15e | – | – | – | – |
L: 10 | L: 15e | |||||
Ankle dorsiflexion with knee extended | – | R: 0 | R: 8 | R: 10 | R: 10 | R: 15 |
L: 5 | L: 5 | L: 10 | L: 10 | L: 15 | ||
Popliteal angle | – | – | R: 15 | R: 25 | R: 30 | R: 0 |
L: 15 | L: 35 | L: 30 | L: 0 | |||
Cardiac functionc | No significant findings | – | No significant findings | No significant changes | No significant findings | – |
Respiratory function | ||||||
FVC,c % | 150 | 157 | 71 | 85 | – | – |
FEV1,c % | 121 | 121 | 71 | 78 | – | – |
FEV1/FVCc | 71 | 79 | 101 | 81 | – | – |
FEF25–75,c % | 76 | 70 | 41 | 46 | – | – |
Polysomnography | – | Snoring, no evidence of significant OSA | No evidence of OSA or restrictive lung disease | Normal breathing | No evidence of OSA or restrictive lung disease | Snoring, no evidence of substantial OSA |
Ophthalmology | Mild corneal haze | Mild corneal haze | Mild corneal haze | Mild corneal haze | Subtle corneal haze | Diffuse fine corneal haze |
Urinary GAGs | ||||||
Chondroitin sulfate, g/mol creatinine | 7.77 | 2.87e | 9.61 | 8.01e | 21.2 | 14.19e |
Keratan sulfate, μg/mol creatinine | 5.35 | 2.97e | 7.21 | 6.33e | 16.6 | 9.95e |