Table 2.
Demographic, clinical, and imaging characteristics of the study cohort
| Variable | All patients [n = 15] |
CMT1A [n = 5] |
CMT1X [n = 3] |
CMT1B [n = 2] |
CMT1C [n = 2] |
CMT2 [n = 1] |
Hereditary myoneuropathy [n = 1] |
|---|---|---|---|---|---|---|---|
| Affected gene | N/A | PMP22 | GJB1 | MPZ | LITAF | DCNT2 | DNAJB5 |
| Mutations | N/A | PMP22 Dup (het) |
1. c.479 A > G; p.Tyr160Cys (hem) 2. c.479 A > G; p.Tyr160Cys (hem) 3. c.617dupT; p.(Ala207Glyfs*36) |
c.616G > T; p.Gly206Ter (het) | c.430G > A; p.Val144Met (het) | c.1159 C > G; p.Leu387Val(het) | c.85_89dupTGGAG; p.Arg30Serfs*50 (het) |
| Sex [f: m] | 9:5 | 3:2 | 1:2 | 1:1 | 2:0 | 1:0 | 1:0 |
| Age [years] |
53 ± 13.3 (32–74) |
53.2 ± 12.36 (40–69) |
51.33 ± 15.53 (34–64) |
57 ± 24.04 (40–74) |
48 ± 22.63 (32–64) |
54 | 58 |
| Height [cm] | 171.07 ± 7.74 (154–183) |
166.2 ± 9.42 (154–178) |
170.33 ± 2.52 (168–173) | 174.5 ± 12.02 (166–183) |
174 ± 1.42 (173–175) |
176 | 180 |
| Weight [kg] | 86.21 ± 19.22 (57–137) |
73.6 ± 6.35 (68–84) |
76.33 ± 16.86 (57–88) |
95 ± 7.07 (90–100) |
116 ± 29.7 (95–137) |
95 | 93 |
| CMTESv2 (0–28) | 13.71 ± 5.7 | 17.8 ± 4.09 | 16.33 ± 4.16 | 12 ± 2.83 | 10.5 ± 3.54 | 5 | 4 |
| Foot dorsiflexion MRC scale (0–5) baseline | 3.44 ± 1.47 | 2.4 ± 1.52 | 3.5 ± 0.5 | 5 ± 0 | 5 ± 0 | 5 | 5 |
| Foot dorsiflexion MRC scale (0–5) follow-up | 3.61 ± 1.67 | 2.3 ± 1.92 | 3.5 ± 1.15 | 5 ± 0 | 5 ± 0 | 5 | 5 |
| Foot plantarflexion MRC scale (0–5) baseline | 4.53 ± 0.93 | 3.8 ± 1.3 | 4.83 ± 0.29 | 5 ± 0 | 5 ± 0 | 5 | 5 |
| Foot plantarflexion MRC scale (0–5) follow-up | 4.36 ± 1.2 | 3.5 ± 2.06 | 3 ± 0 | 5 ± 0 | 5 ± 0 | 5 | 5 |
| VL muscle nSI baseline | 0.4 ± 0,05 | 0.41 ± 0.07 | 0.36 ± 0.02 | 0.38 ± 0.02 | 0.43 ± 0.04 | 0.45 | 0.38 |
| VL muscle nSI follow-up | 0.41 ± 0.06 | 0.4 ± 0.06 | 0.36 ± 0.03 | 0.4 ± 0.01 | 0.5 ± 0.038 | 0.43 | 0.41 |
| RF muscle nSI baseline | 0.35 ± 0.04 | 0.34 ± 0.05 | 0.35 ± 0.05 | 0.33 ± 0.01 | 0.38 ± 0.07 | 0.37 | 0.3 |
| RF muscle nSI follow-up | 0.32 ± 0.03 | 0.31 ± 0.04 | 0.3 ± 0.03 | 0.34 ± 0.00 | 0.37 ± 0.01 | 0.3 | 0.32 |
| TA muscle nSI baseline | 0.38 ± 0.1 | 0.41 ± 0.08 | 0.44 ± 0.18 | 0.33 ± 0.02 | 0.35 ± 0.06 | 0.29 | 0.3 |
| GCNL muscle nSI baseline | 0.41 ± 0.07 | 0.44 ± 0.09 | 0.36 ± 0.07 | 0.43 ± 0.05 | 0.43 ± 0.02 | 0.38 | 0.38 |
| GCNM muscle nSI baseline | 0.52 ± 0.2 | 0.56 ± 0.21 | 0.57 ± 0.36 | 0.44 ± 0.09 | 0.49 ± 0.72 | 0.39 | 0.45 |
| TA muscle nSI follow-up | 0.41 ± 0.12 | 0.45 ± 0.11 | 0.45 ± 0.2 | 0.34 ± 0.002 | 0.45 ± 0.08 | 0.31 | 0.29 |
| GCNL muscle nSI follow-up | 0.46 ± 0.1 | 0.54 ± 0.14 | 0.42 ± 0.06 | 0.43 ± 0.05 | 0.43 ± 0.01 | 0.39 | 0.41 |
| GCNM muscle nSI follow-up | 0.56 ± 0.21 | 0.65 ± 0.25 | 0.59 ± 0.31 | 0.46 ± 0.14 | 0.55 ± 0.13 | 0.39 | 0.44 |
| TA muscle echogenicity |
80.55 ± 19.79 * |
99.01 ± 12.68* | 70.5 ± 7.21 | 64.55 ± 37.64 | 77.38 ± 19.5 | 85.15 | 70.59 |
| GCNL muscle echogenicity | 73.67 ± 21.39 | 86.37 ± 17.7 | 62 ± 17.34 | 73.62 ± 19.41 | 43.38 ± 9.96 | 94.51 | 85.09 |
| GCNM muscle echogenicity |
74.9 ± 11.52 * |
72.38 ± 13.39* | 71.22 ± 16.02 | 79.42 ± 9.35 | 69.8 ± 1.07 | 90.81 | 81.35 |
Values are given as mean ± standard deviation (range) unless otherwise indicated. CMTESv2 = Charcot-Marie-Tooth Examination Score version 2; MRC = Medical Research Council scale; RF = rectus femoris; VL = vastus lateralis; TA = tibialis anterior; GCNL/GCNM = gastrocnemius lateralis/medialis; nSI = normalized signal intensity; muscle echogenicity = grayscale histogram value. Muscle echogenicity is only indicated here at the time of follow-up. One dataset was missing for echogenicity in CMT1A (*)