Table 1.
Characteristics of BMD registrants
| Total | BMD | IMD | |||||||
| n | (%) | Age (mean±SD (median, range)) | n | (%) | Age (mean±SD (median, range)) | n | (%) | Age (mean±SD (median, range)) | |
| Patients | 192 | 100 | 34.80 +/–13.3 (32, 17–78) | 138 | 71.9 | 36.2 +/–14.0§ (33, 17–78) | 54 | 28.1 | 31.3 +/–10.5§(27, 16–60) |
| dead | 5 | 2.6 | 37.4 +/–11.8 (37.5, 17–60) | 0 | 0 | 5 | 100 | 37.4 +/–11.8 (37.5, 17–60) | |
| Walking capability | |||||||||
| ambulant | 100 | 52.1 | 32.1 +/–12.3 (30,17–78) | 100 | 72.5 | 32.1 +/–12.3 (30, 17–78) | 0 | 0 | |
| non-ambulant | 92 | 47.9 | 37.7 +/–13.7 (36, 17–72) | 38 | 27.5 | 46.8 +/–12.6 (45.5, 23–72) | 54 | 100 | 31.3 +/–10.5 (27, 17–60) |
| Wheelchair use | |||||||||
| never | 83 | 43.2 | 30.9 +/–11.4 (29, 17–78) | 38 | 27.5 | 30.9 +/–11.4 (29, 17–78) | 0 | 0 | |
| part-time | 36 | 18.8 | 39.1 +/–ç 14.1(36.5, 17–72) | 24 | 17.4 | 42.5 +/–14.4 (43, 17–72) | 12 | 22.2 | 32.3 +/–11.0 (30, 21–510) |
| full time | 66 | 34.4 | 35.6 +/–13.1(34, 17–65) | 28 | 20.3 | 44.6 +/–12.8 (44.5, 21–65) | 38 | 70.4 | 29.0 +/–8.8 (27, 17–53) |
| bedridden | 7 | 3.6 | 50.9 +/–13.7(49, 30–72) | 3 | 2.2 | 53.0 +/–21.3 (53, 30–72) | 4 | 7.4 | 49.3 +/–8.2 (48.5, 40–60) |
| Steroid use | |||||||||
| never | 160 | 83.3 | 35.7 +/–12.9 (35, 17–72) | 124 | 89.9 | 36.1 +/–13.4 (33.5, 17–72) | 36 | 66.7 | 34.3 +/–10.9 (35, 17–60) |
| yes | 32 | 16.7 | 30.3 +/–14.5 (25.5, 17–78) | 14 | 10.1§ | 36.9 +/–19.0 (31.5, 17–78) | 18 | 33.4§ | 29.2 +/–6.2 (23, 19–48) |
| former | 15 | 7.8 | 30.6 +/–10.4 (27, 20–53) | 6 | 4.3 | 36.0 +/–11.4 (34.5, 20–53) | 9 | 16.7 | 27.0 +/–8.4(25, 21–48) |
| current | 17 | 8.9 | 30.1 +/–17.7(23, 17–78) | 8 | 5.8 | 37.6 +/–24.0 (26.5, 17–78) | 9 | 16.7 | 23.3 +/–3.7 (23, 19–30) |
| Respiratory functions | |||||||||
| normal | 94 | 49.0 | 35.5 +/–13.4 (33, 17–72) | 83 | 60.1 | 36.2 +/–13.3 (33, 17–72) | 5 | 9.4 | 23.0 +/–6.8 (23, 17–34) |
| decreased | 79 | 41.1 | 34.8 +/–12.6(34, 17–78) | 35 | 25.4§ | 37.6 +/–14.5 (36.0, 19–78) | 44 | 83.0§ | 33.0 +/–10.7 (29.5, 18–60) |
| not assessed | 19 | 9.9 | 31.1 +/–13.3 (32, 17–78) | 20 | 14.5 | 32.1 +/–15.8 (23, 19–72) | 4 | 7.5 | 23.3 +/–2.9 (22.5, 21–27) |
| mechanical ventilation | 33 | 17.2 | 39.5 +/–11.3 (40, 22–64) | 7 | 5.1§ | 46.9 +/–11.7 (44, 30–64) | 26 | 48.1§ | 37.5 +/–10.6 (37, 22–60) |
| part-time | 19 | 57.6* | 36.4 +/–11.3 (38, 22–64) | 5 | 71.4* | 48.2 +/–10.3 (44, 40–60) | 14 | 53.8* | 32.1 +/–8.5 (29.5, 22–47) |
| full time | 13 | 39.4* | 43.7 +/–10.6 (48, 26–60) | 2 | 28.6* | 43.5 +/–19.1 (43.5, 30–57) | 11 | 42.3* | 43.8 +/–10.9 (48.0 26–60) |
| unknown | 1 | 3.0* | 17 | 0 | 0.0* | – | 1 | 1.9* | 17 |
| Cardiac functions | |||||||||
| normal | 95 | 49.5 | 33.0 +/–13.4 (30, 17–72) | 83 | 60.1 | 34.0 +/–13.7 (31, 17–72) | 12 | 22.2 | 26.0 +/–8.9 (22.5, 17–47) |
| decreased | 97 | 50.5 | 36.5 +/–13.0 (35, 19–78) | 55 | 39.9§ | 39.4 +/–14.0 (36, 20–78) | 42 | 77.8§ | 32.8 +/–10.6 (29.5–19) |
| Cardiac medication | |||||||||
| prescribed | 106 | 55.2 | 35.8 +/–12.7 (34.5, 18–78) | 60 | 43.5§ | 38.2 +/–13.7 (36, 19–78) | 46 | 85.2§ | 32.8 +/–10.6 (30, 18–60) |
| not prescribed | 86 | 44.8 | 33.5 +/–13.9 (30, 17–72) | 78 | 56.5 | 34.6 +/–14.1 (31.5, 17–72) | 8 | 14.8 | 22.4 +/–3.3 (21.5, 17–27) |
| Drug | |||||||||
| ACE-inhibitor | 70 | 66.0** | 37 | 71.7** | 33 | 71.8** | |||
| β-blocker | 66 | 62.3** | 34 | 56.7** | 32 | 69.6** | |||
| ARB | 17 | 16.0** | 13 | 21.7** | 4 | 8.7** | |||
| Diuretics | 10 | 9.4** | 4 | 6.7** | 6 | 13.0** | |||
| Other | 10 | 9.4** | 5 | 8.3** | 5 | 10.9** | |||
| Muscle biopsy | |||||||||
| performed | 120 | 62.5 | 36.9 +/–13.0 (35, 17–78) | 87 | 63 | 38.9 +/–13.4 (36, 17–78) | 33 | 61.1 | 31.8 +/–10.5 (27, 17–60) |
| not performed | 72 | 37.5 | 31.1 +/–13.0 (25.5, 17–72) | 51 | 37 | 31.4 +/–13.9 (25, 17–72) | 21 | 38.9 | 30.4 +/–10.8 (26, 18–53) |
| Dystrophin staining | |||||||||
| faint and patchy | 49 | 73.1 + | 39 | 83.0 + | 10 | 50.0 + | |||
| negative | 18 | 26.9 + | 8 | 17.0 +§ | 10 | 50.0 +§ | |||
| Family history | |||||||||
| yes | 80 | 41.7 | 37.2 +/–14.8 (35, 17–78) | 67 | 48.6§ | 37/5 +/–15.2 (35, 17–78) | 13 | 24.1§ | 46.0 +/–23.9 (38, 22–60) |
| no | 112 | 58.3 | 33.0 +/–11.9 (30, 17–65) | 71 | 51.4 | 34.9 +/–17.8 (33, 17–65) | 41 | 75.9 | 29.7 +/–9.3 (27, 17–51) |
| sibling | 43 | 22.4 | 34 | 50.74626866 | 8 | 61.53846154 | |||
| maternal relatives | 32 | 16.7 | 28 | 41.79104478 | 4 | 30.76923077 | |||
| mother | 6 | 3.1 | 5 | 7.5 | 1 | 7.692307692 | |||
| sibling’s children | 4 | 2.1 | 3 | 4.5 | 1 | 7.692307692 | |||
| grandchildren | 2 | 1 | 2 | 3.0 | 0 | 0 | |||
| unknown | 1 | 0.5 | 1 | 1.5 | 0 | 0 | |||
| Genotyping | |||||||||
| deletion | 137 | 71.4 | 36.2 +/–13.9 (35.0, 17–78) | 102 | 73.9 | 38.1 +/–14.5 (37, 18–78) | 35 | 64.8 | 30.5 +/–10.3 (27, 17–53) |
| duplication | 16 | 8.3 | 32.5 +/–12.3 (31.5 17–60) | 6 | 4.3 | 28.3 +/–9.9 (27.5, 17–43) | 10 | 18.5 | 35.0 +/–13.4 (33.5, 18–60) |
| small mutation | 39 | 20.3 | 30.9 +/–10.4 (17–63) | 30 | 21.7 | 31.1 +/–14.0 (33, 17–78) | 9 | 16.7 | 30.2 +/–9.0 (27, 21–47) |
| in-flame | 108 | 70.6 # | 96 | 89.7 | 12 | 26.1 | |||
| out-of-flame | 45 | 28.4 # | 11 | 10.3§ | 34 | 75.9§ | |||
| stop-codon | 16 | 13 | 3 | ||||||
*percentage among participants with ventilator use. **percentage among participants with cardiac medication. +percentage among participants with IHC. #percentage among participants with deletion/duplication mutations. §:significant difference between BMD and IMD.