Table 1.
Registry demographics and disease characteristics
| Female | Male | Overall | |
|---|---|---|---|
| Demographics | |||
| Gender (% overall) | 277 (47.9%) | 301 (52.1%) | 578 (100%) |
| Current age, median (1st, 3rd quartile)a | 59 (45.5, 70.5) | 59 (46, 69) | 59 (46, 70) |
| Race (% overall) | |||
| Caucasian | 250 (90.3%) | 275 (91.4%) | 535 (92.6%) |
| Black | 0 (0%) | 4 (1.3%) | 4 (0.7%) |
| Asian | 8 (2.9%) | 7 (2.3%) | 15 (2.6%) |
| Other/not reported | 6 (2.2%) | 4 (1.3%) | 20 (3.5%) |
| Ethnicity (% overall) | |||
| Hispanic/Latino | 11 (4%) | 9 (3%) | 20 (3.5%) |
| Education (% overall) | |||
| College, Masters or Doctoral degree | 170 (61.4%) | 199 (66.1%) | 369 (63.9%) |
| Technical school | 17 (6.1%) | 20 (6.6%) | 37 (6.4%) |
| Elementary + High school | 84 (30.3%) | 74 (24.6%) | 158 (27.3%) |
| Missing | 6 (2.2%) | 8 (2.7%) | 14 (2.4%) |
| Employed (% overall)b | |||
| Yes | 129 (47.1%) | 172 (57.7%) | 301 (52.4%) |
| Disease characteristics | |||
| Age at diagnosis, median (1st, 3rd quartile)c | 31.5 (16, 46) | 29 (18, 47) | 30.0 (18, 47) |
| Age of initial symptoms, median (1st, 3rd quartile)d | 16 (10, 31) | 18 (13, 27) | 17 (12, 29.5) |
| D4Z4 repeat lengthe | |||
| 1–3 | 37 | 23 | 60 (10.4%) |
| 4–7 | 175 | 165 | 340 (58.8%) |
| 8–10 | 43 | 76 | 119 (20.6%) |
| Initial symptoms | |||
| Facial weakness | 72 | 24 | 96 (17%) |
| Upper extremity, proximal weakness | 77 | 105 | 182 (31%) |
| Upper extremity, unspecified weakness | 8 | 19 | 27 (5%) |
| Lower extremity, unspecified weakness | 27 | 29 | 56 (9.7%) |
| Atrophy, muscle mass change | 5 | 25 | 30 (5%) |
| Use of a wheelchair (% overall) | |||
| Yes | 80 | 57 | 137 (23.7%) |
| Breathing problems (% overall) | |||
| Yes | 58 (20.9%) | 47 (15.6%) | 105 (18.2%) |
| Breathing problems due to FSHD (% overall) | |||
| Yes | 23 (8.3%) | 21 (7%) | 44 (7.6%) |
| Use a breathing machine (% overall) | |||
| Yes | 4 (1.4%) | 24 (8%) | 28 (4.8%) |
a
Two participants (one male, one female) did not report birth year. Current age calculated based on birth year as of 31 December 2020.
b
Six participants were excluded due to age <16 years as they were not considered old enough to be a part of the workforce.
c
12 missing; four females, eight males.
d
31 missing: 16 females, 15 males.
e
59 missing; 22 female, 37 male.