Table 1.
Diagnosis of study participants with CMT.
| Type of CMT | Number of participants | CMTES (median score) | FSS (median score) | Walk-12 (median score) | 6MTW (m) | Hip Ext MVC (N/Kg) | Hip Flex MVC (N/Kg) | Hip Abd MVC (N/Kg) | Hip Add MVC (N/Kg) | Knee Ext MVC (N/Kg) | Knee Flex MVC (N/Kg) | PF MVC (N/Kg) | DF MVC (N/Kg) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CMT type 1A | 11 (10 genetically confirmed PMP22 duplication) | 10 | 30 | 38 | 357 ± 70 | 3.2 ± 0.8 | 2.6 ± 0.8 | 2.3 ± 1.2 | 1.9 ± 0.8 | 3.5 ± 1.5 | 1.8 ± 0.9 | 3.6 ± 1.6 | 1.1 ± 1.0 |
| CMT type 2 | 5 (1 MPZ mutation, 1 MFN2 mutation, 3 clinical diagnoses) | 10 | 20 | 39 | 350 ± 45 | 3.3 ± 0.4 | 2.7 ± 0.5 | 1.9 ± 0.5 | 2.7 ± 1.0 | 5.0 ± 0.6 | 2.1 ± 0.6 | 3.6 ± 2.4 | 0.9 ± 1.0 |
| Intermediate CMT | 2 (clinical diagnoses) | 11.5 | 26 | 33 | 331 ± 81 | 4.0 ± 2.0 | 2.9 ± 1.9 | 2.8 ± 1.9 | 2.3 ± 1.0 | 3.5 ± 3.5 | 2.3 ± 2.1 | 3.1 ± 3.8 | 0.6 ± 0.3 |
| CMTX | 1 (genetically confirmed Cx32 mutation) | 10 | 47 | 40 | 322 | 3.4 | 2.2 | 1.7 | 1.8 | 4.4 | 1.3 | 4.6 | 1.2 |
| Hereditary sensory neuropathy type 1 | 1 (SPTLC1 mutation) | 14 | 30 | 35 | 360 | 3.1 | 2.3 | 1.9 | 1.9 | 4.6 | 2.1 | 2.7 | 0.1 |
| Overall | 20 | 10 | 30 | 38.5 | 351 ± 59 | 3.3 ± 0.8 | 2.7 ± 0.8 | 2.2 ± 1.0 | 2.1 ± 0.8 | 4.0 ± 1.6 | 1.9 ± 0.9 | 3.5 ± 1.8 | 1.0 ± 0.9 |
PMP22: peripheral myelin protein 22 gene; MPZ: myelin protein zero gene; MFN2: mitofusin 2 gene; Cx32: connexin 32 gene; SPTLC1: serine palmitoyltransferase, long chain base subunit 1 gene. CMTES: CMT examination score; FSS: fatigue severity score; MVC: maximum voluntary contraction; ext: extensor; flex: flexor; abd: abductor; add: adductor; PF: plantar flexor; DF: dorsiflexor. Values are mean ± standard deviation, unless specified as median.