Table 1.
Demographic, genetic and questionnaire score characteristics of CMT patients with and without a diagnosis of carpal tunnel syndrome.
| Characteristics | Cohort | w CTS | w/o CTS | p-value |
|---|---|---|---|---|
| CMT, n (%) | 309 (100) | 97 (31) | 212 (69) | < 0.000001δ |
| Age, mean ± SD [yrs] | 54 ± 14 | 54 ± 12 | 55 ± 14 | 0.4† |
| Female to Male ratio | 1.6 | 4.1 | 1.2 | 1.0* |
| CMTSS, mean ± SD | 7 ± 3 | 7 ± 3 | 7 ± 3 | 0.1† |
| BCTQ, mean ± SD | 45 ± 16 | 55 ± 14 | 40 ± 15 | <0.0000001† |
| SSS, mean ± SD | 25 ± 10 | 33 ± 9 | 22 ± 8 | <0.0000001† |
| FSS, mean ± SD | 19 ± 7 | 22 ± 6 | 18 ± 7 | <0.000003† |
| DASH, mean ± SD | 71 ± 27 | 77 ± 26 | 68 ± 27 | <0.003† |
| CMT1A/PMP22dup, n (%) | 152 (49) | 44 (45) | 108 (51) | 0.4* |
| CMT1B/MPZ, n (%) | 17 (6) | 6 (6) | 11 (5) | 0.9* |
| CMT2A/MFN2, n (%) | 31 (10) | 5 (5) | 26 (12) | 1.0* |
| CMTX1/GJB1, n (%) | 20 (6) | 9 (9) | 11 (5) | 0.3* |
| HNPP/PMP22del, n (%) | 12 (4) | 9 (9) | 3 (1) | <0.004* |
| CMT4, n (%) | 6 (2) | 1 (1 ) | 5 (2) | 1.0* |
| Other known CMT, n (%) | 21 (7) | 8 (8) | 13 (6) | 0.6* |
| Unknown CMT, n (%) | 49 (16) | 14 (14) | 35 (17) | 1.0* |
| Diabetes | 28 (9) | 11 (11) | 17 (8) | 0.4* |
| Thyroid disease | 51 (17) | 21 (22) | 30 (14) | 0.1* |
| Comorbidities¶ | 53 (17) | 27 (28) | 26 (12) | <0.002* |
binomial test (5% estimated prevalence);
Fisher’s exact test;
Mann-Whitney U test;
rheumatoid arthritis, wrist fracture, renal dialysis, osteoarthritis at the wrist or collagen vascular disease.
Abbreviations: BCTQ, Boston carpal tunnel questionnaire score; CMT, Charcot-Marie-Tooth disease; CMTSS, CMT symptom score; CTS, carpal tunnel syndrome; DASH, disability of arm, shoulder and hand questionnaire score; GJB1, gap junction protein beta 1; HNPP, hereditary neuropathy with liability to pressure palsies; MFN2, mitofusin 2; MPZ, myelin protein zero; PMP22, peripheral myelin protein 22; SD, standard deviation; SSS, symptom severity score; FSS, functional status score.