Table 1.
Main demographic and clinical data of GSD II siblings
| 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 | + | - | + | + |
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.
With + is indicated the presence of anomalies; with - is indicated the absence of anomalies; ND: not determinate.