Table 1.
Demographic information of all individuals is summarized in Table 1
| Demographics | Group 1 | Group 2 | Group 3 | Group 4 | Total |
|---|---|---|---|---|---|
| Numbers | Total (n = 41) | Total (n = 30) | Total (n = 22) | Total (n = 204) | Total (n = 297) |
| Adult (n = 36) | Adult (n = 13) | Adult (n = 8) | Adult (n = 140) | Adult (n = 197) | |
| Children (n = 5) | Children (n = 17) | Children (n = 14) | Children (n = 64) | Children (n = 100) | |
| Male | Total = 15 | Total = 13 | Total = 13 | Total = 83 | Total = 124 |
| Adult = 14 | Adult = 7 | Adult = 5 | Adult = 48 | Adult = 74 | |
| Children = 1 | Children = 6 | Children = 8 | Children = 35 | Children = 50 | |
| Female | Total = 26 | Total = 17 | Total = 9 | Total = 121 | Total = 173 |
| Adult = 22 | Adult = 6 | Adult = 3 | Adult = 92 | Adult = 123 | |
| Children = 4 | Children = 11 | Children = 6 | Children = 29 | Children = 50 | |
| Current age (range) | Total = 45.1 ± 19.5 SD yrs (6 mo–77 yrs) | Total = 19.8 ± 16.3 SD yrs (4 mo–51 yrs) | Total = 19.1 ± 18 SD yrs (1–71 yrs) | Total = 33.1 ± 22.5 SD yrs (6 wks–84 yrs) | Total = 32.4 ± 22.4 SD yrs (6 wks–84 yrs) |
| Adult = 50 ± 15.2 SD yrs (21–77 yrs) | Adult = 34.8 ± 12.7 SD yrs (19–51 yrs) | Adult = 38.5 ± 15.9 SD yrs (19–71 yrs) | Adult = 44.2 ± 18.2 SD yrs (19–84 yrs) | Adult = 44.4 ± 17.6 SD yrs (19–84 yrs) | |
| Children = 9.9 ± 6.2 SD yrs (6 mo–15 yrs) | Children = 8.4 ± 6.6 SD yrs (4 mo–yrs) | Children = 8.1 ± 5.02 SD yrs (1.5–15 yrs) | Children = 8.8 ± 5.5 SD years (6 wks–18 yrs) | Children = 8.7 ± 5.6 SD years (6 wks–18 yrs) | |
| Age of onset (range) | Total = 38.4 ± 17.8 SD yrs (3 mo–69 yrs) | Total = 9.5 ± 15.4 SD yrs (NB–58 yrs) | Total = 4.4 ± 7.8 SD yrs (NB–33 yrs) | Total = 20.9 ± 20.8 SD yrs (0–74 yrs) | Total = 20 ± 20.7 SD yrs (NB–74 yrs) |
| Adult = 38.4 ± 17.8 SD yrs (18–69 yrs) | Adult = 20.9 ± 19.6 SD yrs (6 mo–49 yrs) | Adult = 19.6 ± 11 SD yrs (NB–33 yrs) | Adult = 31.4 ± 19.6 SD years (NB–74 years) | Adult = 31.1 ± 19.4 SD yrs (NB–74 yrs) | |
| Children = 1.3 ± 1.8 SD yrs (NB–4 yrs) | Children = 2.4 ± 3.8 SD yrs (NB–14 yrs) | Children = 1.9 ± 3.3 SD yrs (NB–10 yrs) | Children = 3.0 ± 3.7 SD yrs (NB–14 yrs) | Children = 2.6 ± 3.6 SD years (NB–14yrs) | |
| Age of diagnosis (range) | Total = 38.8 ± 18.7 SD yrs (5 mo–75 yrs) | Total = 12.8 ± 15.3 SD yrs (NB–59 yrs) | Total = 13.6 ± 16.5 SD yrs (2 mo–65 yrs) | NA | Total = 24.7 ± 21.1 SD yrs (NB–75 yrs) |
| Adult = 43.7 ± 13.9 SD yrs (19–75 yrs) | Adult = 24 ± 17.8 SD yrs (2 mo–59 yrs) | Adult = 28 ± 18.9 SD yrs (2–65 yrs) | Adult = 36.4 ± 17.9 SD yrs (2 mo–75 yrs) | ||
| Children = 4.1 ± 4.4 SD yrs (NB–11 yrs) | Children = 4.7 ± 4.7 SD yrs (NB–12 yrs) | Children = 4.7 ± 3.9 SD yrs (2 mo–11 yrs) | Children = 4.5 ± 4.06 SD yrs (NB–12 yrs) | ||
| Deceased | Total = 5 | Total = 3 | Total = 5 | Total = 26 | Total = 39 |
| Adult = 4 | Adult = 1 | Adult = 1 | Adult = 10 | Adult = 16 | |
| Children = 1 | Children = 2 | Children = 4 | Children = 16 | Children = 23 | |
| Most common phenotypes | Total = Muscular (n = 18) | Total = Muscular (n = 17) | Total = Neurodevelopmental (n = 17) | Total = Muscular (n = 102) | Total = Muscular (n = 150) |
| Adult = Muscular (n = 16) | Adult = Muscular (n = 9) | Adult = Muscular (n = 5) | Adult = Muscular (n = 77) | Adult = Muscular (n = 104) | |
| Children = Neurodevelopmental (n = 4) | Children = Neurodevelopmental (n = 11) | Children = Neurodevelopmental (n = 13) | Children = Neurodevelopmental (n = 34) | Children = Neurodevelopmental (n = 62) |
Mo(s) = Month(s); NB = Newborn; NA = Not applicable; Wks = Weeks; Yr(s) = Year(s)