Table 2.
Patient information
| Patient | Sex | Age at diagnosis (months) | GAA genotype | CRIM status (Pos/Neg) | Age ERT started (months) | Immunomodulation (Y/N) | Age at initial diagnostic VFSS (months) | Age at the most recent assessment (months) | Cardiac hypertrophy (LVMI, g/m2) | Respiratory support | Gross motor status | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Start of ERT | Recent assessment | Start of ERT | Recent assessment | Start of ERT | Recent assessment | |||||||||
| 1 | F | 4.9 | c.784G > A / c.784G > A | Pos | 5 | N | 5.1 | 56 | 613 | 60 | Oxy | Nil | Hypotonia | Walking independently |
| 2 | M | 0.4 | c.2744A > C / c.2744A > C | Pos | 0.4 | N | N/A | 89 | 96 | 48 | Nil | Nil | Normal | Walking independently |
| 3 | M | 0.2 | c.877G > A / c.877G > A | Pos | 2.2 | Y | 3.7 | 55 | 50.6 | 36 | Nil | nNIV | Hypotonia | Antigravity UL |
| 4 | F | 6.2 | c.2078dup / c.2078dup | Neg | 6.9 | Y | 6.6 | 24 | 773 | 55.7 | Oxy | cNIV | Hypotonia | Antigravity UL |
| 5 | M | 6.9 | n/a | Pos | NK | N | N/A | 82 | n/a | 55.6 | Nil | Nil | Hypotonia | Walk with support (left hemiplegia from neonatal stroke) |
| 6 | M | 3.1 | c.1933G > A / c.1933G > A | Pos | 3.4 | N | 7 | 40 | 355 | 178.6 | NIV | Nil | Hypotonia | Walking independently |
| 7 | M | 4.6 | c.1933G > A / c.1933G > A | Pos | 4.8 | N | 5.3 | 20 | 114.3 | 49.8 | Nil | Nil | Hypotonia | Walking independently |
| 8 | M | 6.2 | c.2608C > T / c.2608C > T | Neg | 6.7 | Y | 6.3 | 19 | 367 | 128 | Oxy | cNIV | Hypotonia | UL + LL antigravity movements |
| 9 | M | 6.4 | c.1798C > T / c.2105G > T | Pos | 9.2 | N | 10.1 | 124 | n/a | 49.1 | Nil | Nil | Hypotonia | Bottom shuffling |
| 10 | F | 5 | c.2560C > T / c.2560C > T | Neg | 5.1 | Y | 4.9 | 40 | 665 | 69 | Nil | Nil | Hypotonia | Walking independently |
| 11 | M | 3.6 | c.525del / c.2481 + 102_c.2646 + 31del535 | Neg | 4 | Y | 4 | 44 | 343 | 60.2 | Nil | Vent | Hypotonia | Minimal movement UL |
| 12 | M | 31.1a | c.1082C > T / c.1933G > A | Pos | 31.2 | N | 29.8 | 144 | 140.4 | 70 | nNIV | nNIV | Walk with support | Walking independently |
F female, M male, ERT enzyme replacement therapy, VFSS videofluoroscopy swallow study, CRIM cross-reactive immunologic material, NK not known, N/A not applicable, LVMI left ventricular mass index, Oxy oxygen, nNIV nocturnal non-invasive ventilation, cNIV continuous non-invasive ventilation, vent invasive ventilation, UL upper limbs, LL lower limbs
aPatient 12, classified as infantile onset as symptomatic with hypotonia, heart failure from 10.2 months age