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Table 1 Patient characteristics

From: Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Pt Sex Onset (y)g Diagnosis (y)g Examination (y)g Wheelchair (y) Ventilator (y) FVC z-score sitting (% pred) FVC z-score supine (% pred) MRC % CK U/l GAA activity (nmol/h/mg)h Allele 1 Allele 2
1a M 0.5 2.5 10.04 Yes (11) No –0.25 (97 %) –1.12 (87 %) 65 % 530 9.1 c.-32–13T > G (pm) c.525delT (vs)
2e, f F 0.8 0 0.1 No No Too young Too young n.a. 358 Deficient c.-32–13T > G (pm) c.2135 T > C (ls)
3 F 0.8 1.1 8.9 No No 0.21 (102 %) 0.1 (101 %) 89 % 1871 13.3 c.-32–13T > G (pm) c.923A > C (pls)
4e M 0.8 2 2.4 No No Too young Too young n.a. 1353 13 c.-32–13T > G (pm) c.2135 T > C (ls)
5 M 0.8 2.3 9.5 No No –1.53 (82 %) –1.71 (80 %) 98 % 550 15.4 c.-32–13T > G (pm) c.525delT (vs)
6 M 1 2 8.2 Partially (4) No –3.47 (59 %) –4.36 (48 %) 79 % 3078 4.5 c.-32–13T > G (pm) c.1051delG (vs)
7 M 1 2 13.7 No At night (12) –4.08 (54 %) –5.4 (39 %) 87 % 548 17.9 c.-32–13T > G (pm) c.525delT (vs)
8 M 1.5 2 13.3 No No –0.91 (90 %) –1.76 (80 %) 93 % 1595 16 c.-32–13T > G (pm) c.2481 + 102_2646 + 31del (vs)
9a, f M 2 1 6.6 No No –0.97 (89 %) –1.4 (84 %) 94 % 763 11 c.-32–13T > G (pm) c.525delT (vs)
10 M 2.5 3 13 No No –3.01 (66 %) –4.09 (54 %) 84 % 1960 8.6 c.-32–13T > G (pm) c.2331 + 2 T > A (vs)
11d M 5 10.8 10.8 No No 0.2 (102 %) –0.29 (97 %) 97 % 588 11.9 c.-32–13T > G (pm) c.525delT (vs)
12 F 5 7.8 7.8 No No 0.62 (108 %) 0.35 (104 %) 100 % 1003 11.6 c.-32–13T > G (pm) c.2331 + 2 T > A (vs)
13f M 5 2 7.6 No At night (5) –1.77 (78 %) –1.72 (79 %) 100 % 436 Deficient c.-32–13T > G (pm) c.1062C > G (pls)
14 M 7 10 10.7 Yes (22) At night (16) –2.22 (75 %) Unable 80 % 540 8,9 c.-32–13T > G (pm) c.1548G > A (pls)
15f M 8 4 15.8 No No –2.65 (70 %) –3.05 (65 %) 93 % 1424 7.8 c.-32–13T > G (pm) c.1441 T > C (pls)
16f M 12 8 14.6 No No –2.43 (71 %) Unable 82 % 1808 Deficient c.-32–13T > G (pm) c.307 T > G + c.271G > A (pls)
17 M 13 14 14.3 No No –1.68 (81 %) –1.77 (80 %) 95 % 2935 6.2 c.-32–13T > G (pm) c.1933G > A (pls)
18f M no symptoms 4 5.2 No No –1.41 (82 %) –1.96 (76 %) 97 % 677 Deficient c.-32–13T > G (pm) c.2481 + 102_2646 + 31del (vs)
19d, f M no symptoms 13.1 13.1 No No –0.69 (92 %) –1.77 (80 %) 100 % 614 Deficient c.-32–13T > G (pm) c.525delT (vs)
20c, f M no symptoms 14 15.2 No No 3 (135 %) 1.72 (120 %) n.a. 1409 Deficient c.-32–13T > G (pm) c.307 T > G (pls)
21c, f M no symptoms 16 17.1 No No 1.29 (115 %) –0.25 (97 %) n.a. 1506 Deficient c.-32–13T > G (pm) c.307 T > G (pls)
22 M 0.5 1 1.3 Yes (4) Died (10)i –4.77 (45 %)j Unable n.a. 586 Deficient c.1798C > T (ls) c.525delT (vs)
23 F 1 1.9 12.5 Yes (6) Yes (6) Ventilator Ventilator 10 % 1381 Deficient c.875A > G (pm) unknown/r.0?
24 M 2 2.9 2.9 Yes (6) Died (6)i –5.29 (33 %)j Unable n.a. 1046 Deficient unknown c.1645G > A (pm)
25 M 2.7 3.5 5.9 No No 0.34 (104 %) 0.04 (100 %) 87 % 908 2.8 c.1634C > T (ls) c.2481 + 102_2646 + 31del (vs)
26b F 4 4 8.1 No No 0.01 (100 %) –0.63 (92 %) 98 % 572 2.3 c.-32–3C > G (ls) c.1551 + 1G > A (vs)
27b M 5 5 10.1 No No –1.38 (84 %) –2.55 (71 %) n.a. 774 1.7 c.-32–3C > G (ls) c.1551 + 1G > A (vs)
28 F 6 7 9.9 Partially (9) At night (8) –6.36 (30 %) –6.88 (25 %) 82 % 979 0.3 c.1829C > T (ls) c.1912G > T (pls)
29 F 6.5 11.6 12.7 No No –2.36 (73 %) –2.89 (67 %) 79 % 776 8.4 unknown (r.spl 2 %) c.525delT (vs)
30 F 10 11 16.4 Yes (16) Yes (12) –8.07 (13 %) Unable 72 % 1560 3.4 c.-32–3C > A (ls) c.877G > S + c.271G > A (pls)
31f F no symptoms 15 15.9 No No 1.33 (116 %) 1.2 (115 %) 100 % 1040 2.5 c.861C > T (r.spl = <5 %) c.925G > A (pls)
  1. Patients are listed by age of onset and are subdivided into two groups: those who carry the c.-32–13T > G mutation and those who do not a, b, c, d, e : Siblings; f patients who were diagnosed pre-symptomatically; g: Age at onset, age at diagnosis, age at examination expressed in years (y); h: GAA activity was deficient in all patients. Only results obtained in cultured fibroblasts and performed with the same method at Erasmus MC are reported; i: both patients died of respiratory failure, one at age 6, the other at age 10; j: first available lung function measurement (patient still untreated) at the ages of respectively 9 and 5.7 years; severity of the mutation is indicated by (vs) very severe; (pls) potentially less severe; (ls) less severe; (pm) potentially mild (for more information, see www.pompecenter.nl)