Table 1 Patient clinical information
Sample ID | Patient ID | Genetic diagnosis | Age ranges at hospital inspection (years) | Sex | Age ranges at onset (years) | Asymmetric weakness | Facial weakness | Scapula weakness | Humeral weakness | Beevor’s sign | Other symptoms | Serum CK (IU/L) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1, 6 | 1 | FSHD1 | 11–15 | M | Birth | + | + | + | + | No data | Severe hearing loss | 935 |
2 | 2 | FSHD1 | 56–60 | M | 11–15 | + | + | + | + | − | − | 87 |
3 | 3 | FSHD1 | 11–15 | M | 11–15 | + | + | + | + | + | − | 786 |
4 | 4 | FSHD1 | 15–20 | M | 10–15 | + | + | + | + | + | − | 986 |
5 | 5 | FSHD1 | 51–55 | M | 16–20 | + | + | + | + | − | − | 288 |
7 | 6 | Suspected FSHD2 | 26–30 | M | 16–20 | + | + | + | + | No data | − | 1195 |
8 | 7 | Suspected FSHD2 | 41–45 | F | 41–45 | + | + | + | + | − | Mild hearing loss | 380 |
9 | 8 | Suspected FSHD1 | 16–20 | M | 11–15 | + | + | + | + | − | − | 887 |
10 | 9 | Suspected FSHD1 | 61–65 | F | 41–45 | + | + | + | + | + | − | 259 |
11 | 10 | Suspected FSHD1 | 71–75 | F | 46–50 | + | + | + | + | − | Mild hearing loss | 156 |
12 | 11 | Suspected FSHD1 | 11–15 | M | 11–15 | + | − | + | + | − | − | 1262 |
13 | 12 | Suspected FSHD1 | 21–25 | F | Childhood | + | + | + | + | No data | − | 241 |
14 | 13 | Suspected FSHD1 | 16–20 | F | Childhood | + | + | + | + | + | − | 267 |
15 | 14 | Suspected FSHD1 | 66–70 | F | 11–15 | + | + | + | + | + | − | 462 |