Table 2.
Walking ability
| Walking disability | Total | |||
|---|---|---|---|---|
| Independent | Technical assistance | Weelchair-bound | ||
| Recessive forms ≤ 30 y | 23 (32.9%) | 28 (40%) | 19 (27.1%) | 70 |
| > 30 y | 0 | 6 (24%) | 19 (76%) | 25 |
| missense/missense ≤ 30 y | 16 (45.7%) | 10 (28.6%) | 9 (25.7%) | 35 |
| > 30 y | 0 | 5 (50%) | 5 (50%) | 10 |
| truncating/truncating ≤ 30 y | 6 (22.2%) | 13 (48.2%) | 8 (29.6%) | 27 |
| > 30 y | 0 | 1 (6.7%) | 14 (93.3%) | 15 |
| missense/truncating ≤ 30 y | 1 (12.5%) | 5 (62.5%) | 2 (25%) | 8 |
| > 30 y | 0 | 0 | 0 | 0 |
| Dominant forms ≤ 30 y | 8 (73%) | 3 (27%) | 0 | 11 |
| > 30 y | 28 (78%) | 5 (14%) | 3 (8%) | 36 |
Genotype-phenotype correlation analysis using GDAP1 locus-specific database data evaluated walking ability according to the mode of inheritance and the predicted effect on the protein in the recessive forms of CMT. Values represent the number of patients for each situation; the corresponding percentages are shown in brackets. y: years.