Table 2. Clinical characteristics of the LOPD patients.
During the study period patient 1-9 received alglucosidase alfa.
| Patient | Sex | Age | Year of diagnosis | Start on ERT | Aids | Gene mutation |
|---|---|---|---|---|---|---|
| 1 | M | 62 | 2000 | 2007 | B-pap at night | GAA-mutation: c*-32-13T>A GAA-mutation: c.1003G>A |
| 2 | F | 43 | 2010 | 2011 | ÷ | GAA-mutation: c-32-13T>A GAA-mutation: c.307T>G; pC103G |
| 3 | F | 40 | 2015 | 2015 | ÷ | GAA-mutation: c.32-13T>G, Homozygous |
| 4 | M | 42 | 2015 | 2015 | ÷ | GAA-mutation: c.32-13T>G GAA-mutation: c.525 del, p. Glu176Argfs*45 |
| 5 | M | 44 | 2010 | 2011 | ÷ | GAA-mutation: c.32-13T>A GAA-mutation: c.2331+2T>G |
| 6 | F | 30 | 2016 | 2016 | Wheel chair for longer distance | GAA-mutation: c-32-13T>G GAA-mutation: c-525 del, p. Glu176Argfs*45 |
| 7 | F | 25 | 2013 | 2014 | Wheel chair for longer distance | GAA-mutation: c-32-13T>G GAA-mutation: c-525 del, p. Glu176Argfs*45 |
| 8 | M | 19 | 2014 | 2015 | ÷ | GAA-mutation: c.32-13T>G GAA-mutation: c.1548G>A |
| 9 | F | 34 | 2003 | 2014 | ÷ | GAA-mutation: c.32-13T>G GAA-mutation: c.1802C>T |
| 10 | M | 22 | 1995 | 2006 | ÷ | GAA-mutation: IVS1-13T >G GAA-mutation: 2.228A>G |
Notes.
During the study period patient 1–9 received alglucosidase alfa. Patient 10 received avalglucosidase alfa (neoGAA).
- ERT
- Enzyme replacement therapy