Table 2.
Clinical Exam Findings
| Mutation | CLCNI | SCN4A | DM2 | P values (baseline, year 1, year 2)a | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
|
| ||||||||||
| Baseline | Year 1 | Year 2 | Baseline | Year 1 | Year 2 | Baseline | Year 1 | Year 2 | ||
| n | 32 | 26 | 18 | 34 | 19 | 13 | 9 | 6 | 2 | |
| Eye Closure Myotonia, n (%) | 8 (25) | 9 (34.6) | 7 (38.9) | 25 (73.5) | 15 (79) | 10 (76.9) | 3 (33.3) | 2 (33.3) | 0 | <0.001, 0.009, 0.06 |
| Hand Grip Myotonia, n (%) | 24 (75) | 21 (80.8) | 12 (66.7) | 26 (76.5) | 10 (52.6) | 7 (53.9) | 3 (33.3) | 2 (33.3) | 0 | 0.032, 0.035, 0.364 |
| Muscle Hypertrophy, n (%) | 24 (75) | 22 (84.6) | 13 (72.2) | 14 (41.2) | 8 (42.1) | 5 (38.5) | 0 | 0 | 0 | <0.001, 0.001, 0.049 |
| Paradoxical Eyelid Myotonia, n (%) | 0 | 0 | 1 (5.6) | 17 (50) | 12 (63.2) | 8 (61.5) | 0 | 1 (16.7) | 0 | <0.001, <0.001, 0.002 |
| Paradoxical Handgrip Myotonia, n(%) | 1 (3.1) | 0 | 0 | 17 (50) | 10 (52.6) | 5 (38.5) | 1 (11.1) | 1 (16.7) | 0 | <0.001, <0.001, 0.013 |
| Warm-Up Phenomenon, n (%) | 24 (75) | 19 (73.1) | 13 (72.2) | 12 (35.3) | 5 (26.3) | 5 (38.5) | 2 (22.2) | 1 (16.7) | 0 | 0.001, 0.002, 0.090 |
a
Pearson’s chi-square test without continuity correction comparing frequency of examination finding across genetic subtypes at each time point