Table 1
Clinical features and data of ancillary investigations of six patients with FSHD
| Patient | Age/sex | Presenting symptoms | Presenting signs | Age at onset (y) | Progression | CK | CT | EMG | Muscle biopsy | EcoRI fragment size (kb) |
| 1 | 32M | E1-150 drop foot | FS1-150E1-150 | 30 | m | 2.5× | T1-150E1-150C1-150 | N | NP | 30 |
| 2 | 57F | T: walking difficulty | FSHTC1-150 | 50 | m | 1.2× | HTC1-150 | N | N | 26 |
| 3 | 55M | C: inability to walk on toes | FS1-150T1-150C | 50 | m | NI | S1-150T1-150C1-150 | M | NP | 20 |
| 4 | 80M | E1-150: drop foot | S1-150H1-150E1-150 | 75 | m | 2.5× | NP | NP | NP | 38 |
| 5 | 65M | E: drop feet | FS1-150H1-150E1-150 | 64 | m | 3.5× | S1-150H1-150CE1-150 | M | NP | 33 |
| 6 | 40F | S1-150: shoulder pain | S1-150H1-150 | 36 | m | NI | NP | M | NP | 38 |
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↵1-150 Asymmetric; E=foot extensors; F=facial; S=shoulder; T=thigh; H=hip; C=calf; NP=not performed; NI=not increased; m=mild; M=myopathic (short duration MUAPs); N=neurogenic (fibrillations, positive sharp waves, long duration MUAPs).
