Table 1.
Patient details.
| Pat. | Sex | Age1 (years) | Height/ weight1 (cm/kg) |
Follow-up2 | PD type | Age of PD diagnosis (years) | Age of ERT beginning (years) | Respiratory involvement/vital capacity | Ventilatory support (time/day) | Movement support |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 59 | 170/58 | — | Adult LOPD | 51 | No | No | — | Crutches |
| 2 | M | 50 | 167/57 | 14 months | Adult LOPD | 44 | Planned | Yes/IVC 48% | — | Crutches |
| 3 | M | 36 | 186/60 | 11 years | Juvenile LOPD | 13 | 32 | Yes/IVC 40% | — | — |
| 4 | M | 16 | 176/30 | 3 years | Childhood LOPD | 2 | No | Yes/IVC 37% | NIV (16 h) | AWC, PWC |
| 5 | M | 12 | 140/18 | 19 months | Muscular IOPD | 13 | 6 | Yes/IVC 30% | NIV (night) | PWC |
| 6 | M | 3 | 155/33 | 12 years | Muscular IOPD | 13 | 10 | Yes/IVC 32% | — | AWC, PWC |
| 7 | M | 5 | 144/30 | 6 years | Muscular IOPD | 13 | 3 | Yes | TrS (24 h) | PWC |
| 8 | M | 4 | 166/15 | — | Childhood LOPD | 4 | 4 | No | — | — |
Pat.: patient, F: female, M: male, NIV: noninvasive ventilation, TrS: tracheostoma, PWC: powered wheelchair, and AWC: active wheelchair.
1Age, height, and weight at first presentation in our neuromuscular disease center. 2Time period of continuous control investigations during our consultations. 3Within first year of life.