Table 1.
Characteristics of 11 classic infantile Pompe patients
| Patient | Age first assessment (months) | Gender (M/F) | Motor status at first assessment | Motor status at final assessment | Age at final ABR (years) |
|---|---|---|---|---|---|
| 1 | 3 | M | Axial hypotonia, head-lag, extremity movement + | Walks unsupported | 6 |
| 2 | 7 | F | Paralysis legs, paresis arms | Tetraplegic | 6 |
| 3 | 8 | F | Paralysis legs, paresis arms | Tetraplegic | 2 |
| 4 | 2.5 | F | Axial hypotonia, head-lag, extremity movement +/− | Sits unsupported, † 4.2 years | 4 |
| 5 | 2 | M | Axial hypotonia, head-lag, extremity movement + | Walks unsupported, † 4.2 years | 4 |
| 6 | 1 | M | Axial hypotonia, head-lag, extremity movement + | Walks unsupported | 5 |
| 7 | 0.5 | F | Axial hypotonia, head-lag, extremity movement + | Walks unsupported | 5 |
| 8 | 0.1 | M | Axial hypotonia, head-lag, extremity movement + | Walks unsupported | 3 |
| 9 | 2 | M | Axial hypotonia, head-lag, extremity movement +/− | Sits unsupported | 3 |
| 10 | 0.2 | F | Axial hypotonia, head-lag, extremity movement + | Walks unsupported | 1 |
| 11 | 3.5 | F | Axial hypotonia, head-lag, extremity movement +/− | No gains, † 8 months | – |
ABR Auditory brainstem response
† Died