Table 1.
Criteria for validationa and distribution of fulfilled criteria among the 87 cases without genetically confirmed diagnosis
| Criteria for CMT validation | Fulfilled criteria
|
||
|---|---|---|---|
| N (% of group)
| |||
| CMT (N=76) | Non-CMT (N=11) | All cases (N=87) | |
| 1. Neurophysiological evaluation or nerve biopsy consistent with CMT | 59 (77.6) | 3 (27.3) | 62 (71.2) |
| 2. Muscle weakness of the lower limbs | 66 (86.8) | 1 (9.1) | 67 (77.0) |
| 3. Reduced or loss of tendon reflexes of the lower limbs | 66 (86.8) | 6 (54.5) | 72 (82.8) |
| 4. Muscle atrophy | 57 (75.0) | 3 (27.3) | 60 (69.0) |
| 5. Foot deformities | 57 (75.0) | 2 (18.2) | 59 (67.8) |
| 6. Family history of CMT | 47 (61.8) | 2 (18.2) | 49 (56.3) |
| 7. Disease onset before age of 35 years | 57 (75.0) | 6 (54.5) | 63 (72.4) |
Note:
a
In order to validate a case as CMT, at least four out of the seven criteria had to be fulfilled, and at least one of the fulfilled criteria had to be criteria number 1, 2, or 3.
Abbreviations: CMT, Charcot-Marie-Tooth disease; N, number of cases.