Table 1.
Summary of the main clinical features of the patients. Abbreviation: CMTES = Charcot-Marie-Tooth Examination Score; M = male; F = female; y.o. = year old; MRC = Medical Research Council Scale for muscle strength; cMAP = compound motor action potential; MCV = motor conduction velocity; SAP = sensory action potential; SNCV = sensory nerve conduction velocities.
| Patient (CMTES) |
Gender | Onset | Main Symptoms/Signs | Nerve Conduction Studies | Nerve Biopsy | |
|---|---|---|---|---|---|---|
| 1st family (Figure 1A) | II-2 (12) |
M | II decade (hand tremor and cramps) | 54 y.o.: Stepping gait (needing ankle-foot-orthoses) with peroneal hypotrophy and areflexia. Pes equinovarus with griffe of toes; split hand. Distal and severe hypopallesthesia with ataxic gait. Cramps at rest and during exercise. Mild postural tremor of upper limbs. Bilateral hypoacusia. |
17 and 54 y.o.: Severe reduction of cMAP of peroneal (1.5 mV → not evokable) and then median nerves (0.6 mV) with progressive decrease in conduction velocities (44 m/s and 29 m/s, respectively). Preserved sural nerve: SAP = 9 μV; SNCV = 27 m/s. | 17 y.o.: Loss of large nerve fibers, rare regeneration clusters (Figure 2A) |
| II-1 (13) |
M | II decade (walking and running difficulties since he was 10) | 22 y.o.: Stepping gait with peroneal hypotrophy and weakness, lower limbs’ areflexia and distal sensory loss (feet apallesthesia) with ataxia and deficient proprioception; underwent surgery because of pes cavus at 15 years of age. Upper limbs: tremor and progressive weakness since he was 17; hyporeflexia; hand and forearm muscular hypotrophy. | |||
| I-2 (3) |
F | V decade (mild walking difficulties) | 44 y.o.: Bilateral pes cavus, mild weakness in foot plantar flexion (while walking on toes) 84 y.o.: Still paucisymptomatic |
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| 2nd family (Figure 1B) | III-9 (4) |
F | IV decade (mild walking difficulties) | 33 y.o.: Pes cavus; mild weakness in hallux and foot dorsiflexion (MRC 4+/5); stocking-like sensory loss; preserved deep tendon reflexes and muscle trophism | 38 y.o.: Reduction of peroneal cMAP (2 mV); non-evokable sural SAP; intermediate motor conduction velocities (37 m/s for both peroneal and median nerves, 40 m/s for ulnar nerve). | |
| III-10 (11) |
M | III decade (walking difficulties and progressive distal atrophy) | 28 y.o.: Stepping gait with ankle-foot orthosis; loss of deep tendon reflexes; pes equinovarus; “stoking and glove” deep sensory loss; ataxia. Simian hand. Upper limb postural tremor. | 15 y.o.: Axonal neuropathy, mainly affecting large fibers; signs of regeneration | ||
| III-8 (8) |
M | II decade (walking difficulties) | 18 y.o.: Stepping gait with lower limbs’ distal hypotrophy and areflexia; bilateral pes cavus. Preserved strength and deep tendon reflexes on upper limbs. |
17 y.o.: Reduction of peroneal cMAP (2 mV); decrease in motor conduction velocities (32 m/s for peroneal nerve, 36 m/s for median nerve) | 18 y.o.: Axonal neuropathy with moderate reduction of large nerve fibers; sparse regeneration clusters of small fibers (Figure 2B) | |
| I-2; II-2; II-4 | F | N/A | Mild walking difficulties |