Characteristic | Patient-reported | Caregiver-reported | ||||||||
---|---|---|---|---|---|---|---|---|---|---|
Overalla N = 63 | Simplex n = 21 | Junctional n = 8 | Dominant dystrophic n = 14 | Recessive dystrophic n = 19 | Overalla N = 93 | Simplex n = 34 | Junctional n = 7 | Dominant dystrophic n = 17 | Recessive dystrophic n = 34 | |
Sex, n (%) | ||||||||||
Male | 16 (25.4) | 3 (14.3) | 4 (50.0) | 2 (14.3) | 7 (36.8) | 51 (54.8) | 21 (61.8) | 4 (57.1) | 11 (64.7) | 14 (41.2) |
Female | 47 (74.6) | 18 (85.7) | 4 (50.0) | 12 (85.7) | 12 (63.2) | 42 (45.2) | 13 (38.2) | 3 (42.9) | 6 (35.3) | 20 (58.8) |
Age at survey, years, median (range) | 32 (18–70) | 37 (18–67) | 33 (19–63) | 31 (19–60) | 30 (18–70) | 7 (0.2–59) | 5 (0.2–59) | 13 (0.3–24) | 6 (0.3–45) | 7 (0.3–56) |
Age at first symptoms, years, median (range) | 0.0 (0–5) | 0.0 (0–5) | 0.0 (0–4) | 0.0 (0–5) | 0.0 (0–0) | 0.0 (0–1) | 0.0 (0–1) | 0.0 (0–0.1) | 0.0 (0–0.5) | 0.0 (0–0.1) |
Age at diagnosis, years, median (range) | 0.0 (0–55) | 0.5 (0–55) | 0.3 (0–6) | 0.0 (0–5) | 0.0 (0–30) | 0.0 (0–3) | 0.1 (0–1) | 0.1 (0–1.2) | 0.1 (0–3) | 0.0 (0–3) |
Time between symptoms and diagnosis, years, median (range) | 0.0 (0–50) | 0.1 (0–50) | 0.0 (0–2) | 0.0 (0–5) | 0.0 (0–30) | 0.0 (0–3) | 0.0 (0–0.5) | 0.0 (0–1.1) | 0.0 (0–3) | 0.0 (0–3) |
Method of diagnosis, n (%)b | ||||||||||
Skin biopsy | 29 (46.0) | 11 (52.4) | 4 (50.0) | 5 (35.7) | 8 (41.2) | 48 (51.6) | 13 (38.2) | 6 (85.7) | 6 (35.3) | 22 (64.7) |
Genotyping | 4 (6.3) | 0 | 0 | 2 (14.3) | 2 (10.5) | 23 (24.7) | 10 (29.4) | 1 (14.3) | 2 (11.8) | 10 (29.4) |
Physician exam | 12 (19.0) | 5 (23.8) | 1 (12.5) | 2 (14.3) | 4 (21.1) | 15 (16.1) | 8 (23.5) | 2 (28.6) | 2 (11.8) | 3 (8.8) |
Family history | 6 (9.5) | 1 (4.8) | 0 | 4 (28.6) | 1 (5.3) | 11 (11.8) | 7 (20.6) | 0 | 2 (11.8) | 2 (5.9) |
Unknown | 24 (38.1) | 8 (38.1) | 4 (50.0) | 5 (35.7) | 7 (36.8) | 18 (19.4) | 6 (17.6) | 0 | 8 (47.1) | 4 (11.8) |
Otherc | 0 | 0 | 0 | 0 | 0 | 8 (8.6) | 3 (8.8) | 1 (14.3) | 1 (5.9) | 3 (8.8) |