Table 1. Clinical data and results of neurofunctional measures.
| Case number | Age (years) | Age at onset of first symptoms | CMTES (CMTNS) | ONLS Upper/lower limbs | Hand grip z score (N) | Three-point pinch z score (N) | Foot dorsiflexion z score (N) | 9-HPT z score (s) | Walk-12 (%) |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 6 | 20 months | 4 | 1/2 | −1.2 (40) | −2.5 (17) | −3.9 (28) | +3.6 (30.81) | 12 |
| 2 | 8 | 3 years | 1 | 0/2 | −1.7 (58) | −4.6 (12) | −6.5 (11) | +0.73 (20.09) | 5 |
| 3 | 9 | 4 years | 4 (6) | 0/2 | −3.6 (60) | −1.9 (30) | −3.9 (12) | +2.62 (23.68) | 3 |
| 4 | 9 | 7 years | 4 | 1/0 | −1.8 (76) | −4.8 (15) | −4.1 (15) | +2.7 (30.43) | 5 |
| 5 | 10 | 3 years | 2 (5) | 0/2 | −0.8 (86) | −3 (18) | −5.1 (22) | +2.24 (24.34) | 3 |
| 6 | 10 | 8 years | 1 (6) | 0/2 | −0.6 (92) | −2.4 (28) | −5.3 (19) | +1.45 (21.65) | 15 |
| 7 | 10 | 12 months | 2 | 1/0 | −2.3 (94) | −3.7 (22) | −7.4 (20) | +0.68 (21.71) | 7 |
| 8 | 12 | 3 years | 8 | 2/2 | −2.2 (64) | −5 (14) | −4.8 (12) | +5.8 (27.66) | 23 |
| 9 | 12 | 5 years | 9 | 1/2 | −2.1 (68) | −5.2 (14) | −4.7 (18) | +6.46 (28.73) | 8 |
| 10 | 12 | Asymptomatic | 4 | 1/0 | −0.9 (166) | −2 (40) | −5 (31) | +1.20 (21.02) | 22 |
| 11 | 12 | 3 years | 7 (10) | 1/2 | −2.9 (34) | −5.6 (10) | −4.8 (12) | +5.02 (26.47) | 7 |
| 12 | 13 | 3 years | 2 (3) | 0/0 | −1.8 (134) | −3.1 (19) | −3.5 (27) | +1.48 (21.72) | 7 |
| 13 | 14 | 2 years | 4 (6) | 1/0 | −2.7 (132) | −5.6 (17) | −3.9 (24) | +3.04 (27.22) | 12 |
| 14 | 14 | 11 years | 5 (8) | 0/2 | −3.2 (96) | −4.6 (35) | −4.2 (3) | +1.02 (20.78) | 25 |
| 15 | 14 | 6 years | 2 | 0/2 | −2.4 (148) | −4.3 (40) | −4 (18) | −0.08 (17.78) | 13 |
| 16 | 14 | 10 years | 8 | 1/2 | −2.9 (118) | −5.2 (24) | −4.1 (12) | +2.38 (24.43) | 33 |
| 17 | 15 | 3 years | 3 | 1/2 | −2.9 (152) | −2.9 (43) | −5.1 (10) | +3.8 (28.41) | 12 |
| 18 | 15 | 4 years | 2 (2) | 0/2 | −2.7 (174) | −4.6 (21) | −4.6 (34) | +0.39 (17.75) | 0 |
| 19 | 16 | 18 months | 4 | 1/2 | −3.9 (184) | −3.6 (60) | −4.7 (9) | +3.85 (22.82) | 27 |
| 20 | 16 | 2 years | 2 | 1/0 | −4.0 (180) | −5.4 (22) | −4.5 (23) | +3.35 (23.53) | 0 |
| 21 | 17 | 6 years | 4 (6) | 0/2 | −3.5 (214) | −3.7 (58) | −4.2 (36) | +3.05 (23.00) | 22 |
CMTES, Charcot-Marie-Tooth Examination Score; CMTNS, Charcot-Marie-Tooth Neuropathy Score; 9-HPT, nine-hole peg test; N, Newton; ONLS, Overall Neuropathy Limitations Scale.