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Table 1 Main demographic and clinical data of GSD II sibling s

From: Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

  II-1 II-4 II-5 II-6 II-7 II-8 II-9 II-10 II-12 II-13
Sex M F F M M F M M F M
Age 1 56 50 53 54 40 47 38 - 39 35
Age 2 66 59 57 57 53 51 50 - 44 42
MMT-MRC (%) 94 79 82 97 76 86 74 100 78 75
GSGCA(X/27) 25 12 12 25 7 9 9 26 8 6
6MWT (m) 580 297 225 600 324 325 254 610 268 254
CK 170 404 255 140 582 565 404 110 353 887
FVC % 12,8 35 46 11 17 18 20 8 21 18
DBS 3.95 2.70 0.12 4.1 0.11 0.04 0.09 20 0.12 0.31
Muscle GAA   4.2 2.5   2.6 2.3 2.4   2.5 3.1
Cereb.Anom. + + + + + ND + - + +
  1. The ID number of the patients was relative to the pedigree showed in Figure 2. Age 1: Age at first symptoms (years); Age 2: Age at diagnosis (years); MMT-MRC (%): manual muscle testing (MMT) using the MRC (Medical Research Council) grading scale; GSGCA: Gait, Stairs, Gowers, Chair, Arms; MWT: six-min walk test; CK: creatine kinase (50–190 U/L); FVC %: forced vital capacity (drop from sitting to supine); DBS: GAA activity (1,86-21,9 mol/h/l; Muscle GAA: GAA activity in muscle tissues (34 – 138 pmol/min/mg protein); CA: Angio MR cerebral anomalies.
  2. With + is indicated the presence of anomalies; with - is indicated the absence of anomalies; ND: not determinate.