Table 1.
Pathology grade clinical characteristics
| Item | FSHD1 | FSHD2¶ | Total | P Value+ |
|---|---|---|---|---|
| n | 64 | 10 | 74 | - |
| Gender (%M) | 45 (70.3) | 7 (70.0) | 52 (70.3) | 0.98* |
| Median Age (Q1, Q3) | 50.0 (39.5, 57.0) | 51.5 (34.0, 62.0) | 50.0 (38.0, 59.0) | 0.67 |
| Median Age Dx (Q1, Q3)@ | 38.0 (24.0, 50.0) | 29.0 (18.0, 59.0) | 37.5 (24.0, 50.0) | 0.99 |
| Median D4Z4 (Q1, Q3) | 24.0 (18.5, 29.0) | 45.0 (42.0, 55.0) | 24.5 (19.0, 31.0) | <0.0001 |
| Median Meth (955 CI)% | 33.0 (28.0, 38.3) | 15.5 (12.0, 18.0) | 31.5 (23.0, 37.9) | <0.0001 |
| Median CSS (Q1, Q3) | 5.00 (3.00, 6.00) | 5.50 (5.00, 6.00) | 5.00 (3.00, 6.00) | 0.89 |
| Median Quad Path Grade (Q1, Q3) | 3.00 (2.00, 4.00) | 3.00 (2.00, 4.00) | 3.00 (2.00, 4.00) | 0.78 |
| Median Quad QMT std (Q1, Q3)# | −1.29 (−2.82, −0.51) | −0.775 (−1.46, 0.032) | −1.24 (−2.51, −0.44) | 0.26 |
| Median SROM (Q1, Q3)$ | 80.0 (60.0, 135) | 80.0 (80.0, 90.0) | 80.0 (60.0, 135) | 0.96 |
¶
6 had mutations in SMCHD1
+
Significance taken from the Kruskal-Wallis test
*
chi square test
@
n=50 (43 FSHD1, 7 FSHD2)
%
n=68 (58 FSHD1, 10 FSHD2)
#
n=50 (42 FSHD1, 8 FSHD2)
$
n=58 (49 FSHD1, 9 FSHD2), SROM = average of the passive range of motion to shoulder abduction for the left and right sides.
n=number; dx=diagnosis; Q1=first quartile; Q3=third quartile; Meth=methylation; CSS = clinical severity score; Quad=quadriceps; path=pathology; QMT=quantitative myometry; std = standard score; SROM = shoulder range of motion.