Tendon reflexes¶ | NCV (m/s) | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Patient | Sex | Genotype* | Age of onset | Age at last examination | Foot deformity† | Muscle atrophy‡ | Gait disturbance§ | ATR | PTR | Sensory disturbance** | Motor median | Motor tibial | Sural |
*The haplotypes of deceased subjects I.2 and II.5 were deduced from the haplotype data of their offspring and are given in brackets. | |||||||||||||
†Foot deformity: mild foot deformity (+); needs orthopaedic shoes (++); requires surgery (+++). | |||||||||||||
‡Muscle atrophy: mild (+); moderate (++); severe (+++). | |||||||||||||
§Gait disturbance: difficulties in running (+); steppage gait (++); wheelchair dependent (+++). | |||||||||||||
¶Tendon reflexes: absent (–); diminished (+); normal (++). | |||||||||||||
**Sensory disturbance: mildly reduced sensitivity (+); severely reduced sensitivity (++); sensory loss (+++). | |||||||||||||
ND: not determined; NR: not recordable. | |||||||||||||
I.2 | F | (−458A/G) | 25–30 | 40 | + | + | + | ND | ND | ND | ND | ND | ND |
II.5 | M | (−458A) | 10–15 | 50 | +++ | +++ | +++ | – | – | ++ | ND | ND | ND |
II.7 | M | −458A | Unaffected | 65 | |||||||||
II.8 | M | −458G | Unaffected | 63 | |||||||||
III.2 | F | −458A/G | 20–25 | 42 | +++ | ++ | ++ | – | – | ++ | 39.4 | 30.5 | NR |
III.4 | F | −458A/G | 20 | 40 | +++ | +++ | ++ | – | – | +++ | 40.1 | 29.2 | NR |
III.5 | M | −458G | Unaffected | 37 | |||||||||
III.6 | F | −458A/G | 20 | 34 | +++ | ++ | ++ | – | – | ++ | 41.7 | 32.3 | NR |
IV.1 | M | −458G | 5–10 | 18 | +++ | +++ | ++ | – | – | +++ | 32.2 | ND | NR |
IV.2 | F | −458G/G | Unaffected | 23 | |||||||||
IV.3 | M | −458A | 10 | 16 | +++ | ++ | ++ | – | – | ++ | 33.8 | 25.4 | NR |
IV.4 | M | −458A | 5 | 13 | +++ | +++ | ++ | – | – | +++ | 32.2 | 24.7 | NR |