N | Gender | Initial Symptoms | Age at diagnosis (months) | Age at onset of ERT (months) | GAA mutations | Previous family history | CRIM Status* | Intercurrences and Comorbidities | Death/ Current age** | |
Allele 1 | Allele 2 | |||||||||
1 | F | HC, MDI | 2 | 2 | c.2560 C > T p.R854X | c.2481 + 102_2646 + 31del | Yes | Positive | PMT, PNM, right tibia fracture osteopenia, visual and hearing impairment; distended bladder; kyphoscoliosis, palpebral ptosis | 8y 3m |
2 | F | macroglossia, hypotonia and MW, SDI, MDI, RI | 3 | 4 | c.1504 A > G p.Met502Val | Normal (MLPA# not performed) | No | Positive | coxofemoral dysplasia; lordosis and scoliosis; hidde bifid spine; PNM | 6y |
3 | M | HC, macroglossia, hypotonia and MW, SDI, MDI, RI, hepatomegaly | 36 | 37 | c.1408_1410 del p.N470del | c.1556T > C; p.M519T | No | Positive | PNM; kyphoscoliosis | 5y 6m |
4 | F | HC, macroglossia, hypotonia and MW, SDI, MDI, RI, hepatomegaly | 21 | 23 | c.692 + 2T > C | c.692 + 2T > C | No | Positive | PNM | 4y 3m |
5 | M | HC, macroglossia, hypotonia and MW, SDI, MDI, RI | 4 | 5 | c. 2560 C > T p.R854 | c.2501_2502 del CA p.T834 Rfs49 | No | Negative | CA, cerebral atrophy, PNM, convulsions, cognitive impairment | 3y 7m |
6 | M | HC, macroglossia, SDI, MDI, RI | 5 | 7 | c.1941C > G p.C647W | c.2501_2502 del CA p.T834 Rfs49 | No | Positive+ | CA, PNM, scoliosis | 3y 1m |
7 | M | HC, macroglossia, hypotonia and MW, MDI, RI, hepatomegaly | 8 | 8 | c.2560 C > T p.R854 | c.236_246del11bp p.P79Rfs*13 | No | Positive | CA | †2y 6m |
8 | M | HC, macroglossia, hypotonia and MW, MDI, hepatomegaly | 1 | 4 | c.1941C > G (p.Cys647Trp) | c.1941C > G (p.Cys647Trp) | No | Positive | PNM, kyphoscoliosis | 2y |
9 | M | HC, hypotonia and MW, MDI, RI, hepatomegaly | 4 | 5 | C 2560 C > T p.R854 | C 2560 C > T p.R854 | Yes | Negative | convulsions, PNM | †1y 1m |
10 | M | HC, macroglossia, hypotonia and MW, SDI, MDI | 5 | 8 | c.2560C > T (p.Arg854) | c.1912G > T (p.Gly638Trp) | No | Positive+ | PMT, PNA | †9m |