Table 1.
Demographic, clinical and genetic data of the Austrian LOPD patients
| ID | Gender | Age | Symptom onset [years] | Findings at presentation | Diagnostic delay [years] | Duration of ERT [years] | Genetics allel 1 | Genetics allel 2 |
|---|---|---|---|---|---|---|---|---|
| 1 | M | 36 | 21 | l, a | 6 | 8 | c.-32-13T > G | c.877G > A |
| 2 | F | 65 | 44 | l, a, r | 10 | 11 | c.-32-13T > G | c.1912G > T |
| 3 | F | 26 | 18 | l, a, r | 1 | 7 | c.-32-13T > G | c.2281delinsAT |
| 4 | F | 58 | 25 | l, a, r | 18 | 8 | c.-32-13T > G | c.307T > G |
| 4a | M | 56 | 46 | r | 0 | 6 | c.-32-13T > G | c.307T > G |
| 6 | F | 37 | 22 | l, a, r | 1 | 8 | c.-32-13T > G | c.1076-2G > A |
| 7 | M | 27 | 11 | l, a | 5 | 11 | c.692 + 5G > T | c.953T > C |
| 8 | F | 29 | 18 | l | 0.5 | 11 | c.-32-13T > G | c.877G > A |
| 9 | M | 38 | 21 | l, a, r, s | 0.5 | 11 | c.-32-13T > G | c.1051delG |
| 10 | F | 64 | 47 | l | 3 | 12 | c.-32-13T > G | c.271G > A |
| 11 | M | 62 | 24 | l, a, s | 34 | 3 | c.-32-13T > G | c.1051delG |
| 12 | F | 50 | nk | l, a, r | nk | 8 | c.-32-13T > G | c.271delG |
| 13 | M | 39 | nk | l, a, r | nk | * | c.-32-13T > G | c.955 + 2T > G |
| 14 | M | 37 | 28 | l, a, s | 8 | 1 | c.-32-13T > G | c.271 G > A |
| 15 | M | 16 | 3.5 | l, a | 1.5 | 11 | c.1076-22T > G | c.525delT |
| 16 | M | 13 | 6 | l, a, s | 6.5 | 1 | c.1548G > A | c.1470C > A |
| 17 | F | 69 | 40 | l, a, r | 28 | ** | c.-32-13T > G | c.323G > C |
| 18 | F | 25 | nk | l, a | nk | ** | c.-32-13T > G | c.2608C > T |
| 19 | M | 15 | 15 | HyperCK | 0.5 | 0 | c.-32-13T > G | c.2380dupC |
| 20 | M | 11 | 8 | HyperCK | 3 | 0 | c.-32-13T > G | c.2051C > G |
| 21 | W | 13 | 12.5 | HyperCK | 0.5 | 0 | c.1134C > G | c.1478C > T |
New mutations are bold
nk not known, l limb-girdle weakness, a axial weakness, r respiratory weakness, s scapula alata, HyperCK asymptomatic hyperCKemia, ERT enzyme replacement therapy
* pt. decided to stop treatment after 2 years due to lack of efficacy and severe disease, ** ERT recently started