Table 2 Pompe disease related patient characteristics

Age at diagnosis, years

31 ± 14

Disease duration, years

19 ± 14

Hypoventilation, n (%)

9 (53)

Mechanical ventilatory support, n (%)

8 (47)

Severely impaired FVC*, n (%)

7 (44)

Limb girdle weakness, n (%)

16 (94)

Walking aid necessary, n (%)

3 (18)

Six minute walk test, m

410 (234–512)

Enzyme replacement therapy, n (%)

12 (71)

Duration of enzyme therapy, months

72 (29–83)