Table 1.
Clinical and genetic features of the LOPD patients included in the study.
| ID | Gender | Age at Symptom Onset (y) |
Symptoms at Onset |
GAA Mutations |
Age at Study Inclusion (y) |
Disease Duration at Inclusion (y) |
Duration of ERT (y) |
NIV at Night (Y/N), Age at Start NIV (y) |
FVC Sitting Visit 1 (0 Months) (%) |
FVC Supine Visit 1 (0 Months) (%) |
FVC Sitting Visit 5 (24 Months) (%) |
FVC Supine Visit 5 (24 Months) (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 42 | LW | c.-32-13T>G; c.482_483delCC | 48 | 6 | 6 | N | 101 | 97 | 96 | 94 |
| 2 | F | 1 | LW | c.-32-13T>G; c.923A>C |
22 | 21 | 13 | N | 106 | 91 | 106 | 107 |
| 3 | M | 39 | R | c.-32-13T>G; c.258dupC |
61 | 22 | 11 | Y (40) | 33 | ND | 30 | ND |
| 4 | F | 35 | LW | c.-32-13T>G; c.1548G>A |
49 | 14 | 12 | Y (36) | 48 | 33 | 51 | 38 |
| 5 | M | 17 | LW | c.-32-13T>G; c.482_483del |
43 | 26 | 8 | N | 73 | 67 | 76 | 62 |
| 6 | F | 27 | hyperCK, F | c.-32-13T>G; c.525delT |
40 | 13 | 8 | N | 114 | 93 | 121 | 105 |
| 7 | M | 42 | LW | c.-32-13T>G; c.2608C>T |
54 | 12 | 0.5 | Y (53) | 76 | 45 | 84 | 45 |
| 8 | M | 45 | LW | c.-32-13T>G; c.1681_1699dup19 | 67 | 22 | 11 | Y (60) | 101 | 49 | 105 | 59 |
| 9 | F | 44 | LW | c.-32-13T>G; del exon 18 |
62 | 18 | 10 | N | 70 | 43 | 64 | 32 |
| 10 | F | 52 | LW | c.-32-13T>G; c.258dupC |
63 | 11 | 8 | N | 108 | 78 | 73 | 56 |
| 11 | F | 25 | LW | c.-32-13T>G; c.186dup11 |
61 | 36 | 9 | N | 84 | 64 | 79 | 62 |
| 12 | M | 25 | LW | c.-32-13T>G; c.1075G>A |
45 | 20 | 9 | N | 80 | 62 | 79 | 56 |
| 32.8 (1–52) |
51.3 (22–67) |
18.4 (0.5–36) |
8.8 (0.5–13) |
ID, patient number; y, years; GAA, acid alpha-glucosidase gene; ERT, enzyme replacement therapy; NIV, non-invasive ventilation; FVC, forced vital capacity; F, female; M, male; LW, limb–girdle weakness; R, respiratory weakness; hyperCK, increased creatine kinase in blood; F, fatigue; Y, yes; N, No; ND, not done.