Table 4.
Type of disease onset: comparison of our study with the two reports on FSHD series of cases with 4q35 analysis.
| Series of cases | Butz et al.c[10] | Krasnianski et al. [11] | Present study |
|---|---|---|---|
| General data | |||
| Number of cases | 34 (from 39c) | 41 | 122 |
| M/F | 26/13 | Not reported | 75/47 |
| Mean age (range) | 46 years (18–75) | Not reported | 49 years (11–85) |
| Onset typea | |||
| Typical b (facial or scapulo-humeral) | 24 cases (71%) (22 cases: 32–41 kb) (2 cases: >41 kb) | 35 cases (85%) (<35 kb) | 88 (72%) (14–38 kb) |
| Facial-sparingd (scapulo-humeral) | 6 cases (18%) (32–41 kb) | 3 cases (7%)(30–34 kb) | 7 cases (6%) (32–38 kb) |
| Tibialis anterior (foot-drop) | Not evaluated | Not evaluated | 16 cases (13%) (19–38 kb) |
| Proximal lower limbs | 2 cases (6%) (35 kb) | – | 8 cases (7%) (15–27 kb) |
| Non-progressive pectoralis’ atrophia | 2 cases (6%) (35–41 kb) | – | – |
| Sural triceps | – | – | 1 case (38 kb) |
| Progressive Ext. ophthalmoplegia | – | 3 cases (7%) (20 kb) | – |
| Myoglobinuria | – | – | 1 case (24 kb) |
| Brain involvement | – | – | 1 case (11 kb) |
a
Muscles or tissues involved are indicated (in brackets the EcoRI fragment kb).
b
Typical onset according to the FSHD diagnostic criteria of the European Neuromuscular Centre (Ref. [12]).
c
39 cases were re-examined in this series: 34 were confirmed as FSHD, 5 were classified as non-FSHD.
d
Persistent “facial-sparing” phenotype during disease course.