Table 1.
Clinical manifestations of the patients with PMP22 point mutations.
| Patient | A | B | C | D | E |
|---|---|---|---|---|---|
| PMP22 mutation | c.124 T > C, p.C42R | c.256 C > T, p.Q86X | c.256 C > T, p.Q86X | c.310delA, p.I104FfsX7 | c.319 + 1G > A |
| Sex | Male | Female | Female | Male | Female |
| Age at onset (y) | 20 | Teenage | 20 | < 1 y | 19 |
| Age at exam (y) | 40 | 28 | 29 | 26 | 20 |
| Clinical diagnosis | HNPP | Demyelinating CMT | Demyelinating CMT | Demyelinating CMT | Demyelinating CMT |
| Inheritance | Apparently sporadic | Autosomal dominant | Apparently sporadic | Apparently sporadic | de novo |
| First symptom | Left hand numbness | Foot drop | Foot drop | Delayed walking | Left hand numbness |
| Muscle strength (MRC scale) | |||||
| Dorsiflexion | 5 | 0 | 0 | 0 | 5 |
| Plantar flexion | 5 | 2 | 2 | 1 | 5 |
| Knee flexion | 5 | 4 | 4 | 4 | 5 |
| Thumb abduction | 5 | 3 | 4 | 3 | 5 |
| Wrist extension | 5 | 4 | 5 | 4 | 5 |
| Muscle atrophy | Nil | Distal UL + LL | Distal UL + LL | Distal UL + LL | Distal LL |
| Knee DTR (Rt/Lt) | +/+ | −/− | −/− | −/− | −/− |
| Ankle DTR (Rt/Lt) | −/+ | −/− | −/− | −/− | −/− |
| Sensory loss | Nil | Distal to ankles | Toes and distal fingers | Distal to ankles and wrists | Nil |
| References | Laššuthová et al.21 | Numakura et al.19 | Numakura et al.19 | This study | Nelis et al.20 |
Abbreviation: HNPP = hereditary neuropathy with liability to pressure palsies; CMT = Charcot-Marie-Tooth disease; MRC = Medical Research Council; LL = lower limbs; UL = upper limbs; DTR = deep tendon reflex; Rt = right; Lt = left.